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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
..Starting node ..Alexander Disease (D038261)
Child Nodes:
........Alexanders leukodystrophy (C531607)
Sister Nodes:
..Alexander Disease (D038261) 1
..Amyloid Neuropathies, Familial (D028227) 1
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Canavan Disease (D017825)
..Cerebrocortical Degeneration of Infancy (C565863)
..Cockayne Syndrome (D003057) 6
..Dystonia Musculorum Deformans (D004422) 7
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Fatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Huntington Disease-Like Syndrome (C580174)
..Lafora Disease (D020192)
..Lesch-Nyhan Syndrome (D007926) 1
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation, X-Linked (D038901) 134
..Microphthalmia, Syndromic 10 (C566985)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Myotonia Congenita (D009224) 5
..Myotonic Dystrophy (D009223) 1
..Navajo neurohepatopathy (C538344) 1
..Neuroacanthocytosis (D054546) 1
..Neurofibromatoses (D017253) 13
..Neuronal Ceroid-Lipofuscinoses (D009472) 9
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic Atrophies, Hereditary (D015418) 30
..Opticocochleodentate Degeneration (C563002)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Rett Syndrome (D015518) 5
..Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..Spinal Muscular Atrophies of Childhood (D014897) 7
..Spinocerebellar Degenerations (D013132) 85
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Tourette Syndrome (D005879) 2
..Tuberous Sclerosis (D014402) 4
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

422

Name:

Alexander Disease

Definition:

Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.

Alternative IDs:

OMIM:203450

ParentIDs:

MESH:D020271|MESH:D020279

TreeNumbers:

C10.228.140.163.100.362.312 |C10.228.140.695.625.312 |C10.314.400.312 |C10.574.500.024 |C16.320.400.024 |C16.320.565.189.362.312 |C18.452.132.100.362.312 |C18.452.648.189.362.312

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D038261
MeSH: D038261
OMIM: 203450;

Genes: GFAP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0001251	Ataxia	HP:0040282
4	HP:0002483	Bulbar signs
5	HP:0002376	Developmental regression
6	HP:0007162	Diffuse demyelination of the cerebral white matter
7	HP:0000238	Hydrocephalus
8	HP:0002922	Increased CSF protein
9	HP:0004481	Progressive macrocephaly
10	HP:0001250	Seizure
11	HP:0001257	Spasticity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002055.4(GFAP):c.1277A>T (p.Gln426Leu)	2670	GFAP	Pathogenic	267607521	RCV000192188; RCV000056851;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42984737	42984737	NM_002055.4:c.1277A>T	NP_002046.1:p.Gln426Leu	NC_000017.10:g.42984737T>A	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1250A>C (p.Asp417Ala)	2670	GFAP	Pathogenic	267607520	RCV000192186; RCV000056849;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42985439	42985439	NM_002055.4:c.1250A>C	NP_002046.1:p.Asp417Ala	NC_000017.10:g.42985439T>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1249delG (p.Asp417Metfs)	2670	GFAP	Pathogenic	797044591	RCV000192187;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42985440	42985440	NM_002055.4:c.1249delG	NP_002046.1:p.Asp417Metfs	NC_000017.10:g.42985440delC	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1246C>T (p.Arg416Trp)	2670	GFAP	Pathogenic	121909717	RCV000017552; RCV000056848;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42985443	42985443	NM_002055.4:c.1246C>T	NP_002046.1:p.Arg416Trp	NC_000017.10:g.42985443G>A	OMIM Allelic Variant:137780.0003	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1193C>A (p.Ser398Tyr)	2670	GFAP	Pathogenic	267607508	RCV000192184; RCV000056847;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42985496	42985496	NM_002055.4:c.1193C>A	NP_002046.1:p.Ser398Tyr	NC_000017.10:g.42985496G>A,NC_000017.10:g.42985496G>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1193C>T (p.Ser398Phe)	2670	GFAP	Pathogenic	267607508	RCV000192183;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42985496	42985496	NM_002055.4:c.1193C>T	NP_002046.1:p.Ser398Phe	NC_000017.10:g.42985496G>A,NC_000017.10:g.42985496G>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1178G>T (p.Ser393Ile)	2670	GFAP	Pathogenic	62635764	RCV000192182; RCV000056846;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42985511	42985511	NM_002055.4:c.1178G>T	NP_002046.1:p.Ser393Ile	NC_000017.10:g.42985511C>A	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_001131019.2(GFAP):c.1292_*3delGTTAGCTGinsATC (p.Val431_Met432delinsAspArgGlnAspProProGlyGlyLeuCys	2670	GFAP	Pathogenic	797044592	RCV000192189;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42987501	42987508	NM_001131019.2:c.1292_*3delGTTAGCTGinsATC	NP_001124491.1:p.Val431_Met432delinsAspArgGlnAspProProGlyGlyLeuCysProValSer(Val431AspfsTer14)	NC_000017.10:g.42987501_42987508delCAGCTAACinsGAT	-	C0270726 203450 Alexander's disease
NM_001131019.2(GFAP):c.1289G>A (p.Arg430His)	2670	GFAP	Pathogenic	748860341	RCV000192190;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42987511	42987511	NM_001131019.2:c.1289G>A	NP_001124491.1:p.Arg430His	NC_000017.10:g.42987511C>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1157A>T (p.Asn386Ile)	2670	GFAP	Pathogenic	61726471	RCV000192181; RCV000056842;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42987997	42987997	NM_002055.4:c.1157A>T	NP_002046.1:p.Asn386Ile	NC_000017.10:g.42987997T>A	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1154C>T (p.Ser385Phe)	2670	GFAP	Pathogenic	797044590	RCV000192179;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988000	42988000	NM_002055.4:c.1154C>T	NP_002046.1:p.Ser385Phe	NC_000017.10:g.42988000G>A,NC_000017.10:g.42988000G>C	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1154C>G (p.Ser385Cys)	2670	GFAP	Pathogenic	797044590	RCV000192180;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988000	42988000	NM_002055.4:c.1154C>G	NP_002046.1:p.Ser385Cys	NC_000017.10:g.42988000G>A,NC_000017.10:g.42988000G>C	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1148C>T (p.Thr383Ile)	2670	GFAP	Pathogenic	267607517	RCV000192178; RCV000056841;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988006	42988006	NM_002055.4:c.1148C>T	NP_002046.1:p.Thr383Ile	NC_000017.10:g.42988006G>A	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1126C>T (p.Arg376Trp)	2670	GFAP	Pathogenic	267607512	RCV000192177; RCV000056837;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988605	42988605	NM_002055.4:c.1126C>T	NP_002046.1:p.Arg376Trp	NC_000017.10:g.42988605G>A,NC_000017.10:g.42988605G>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1121A>G (p.Glu374Gly)	2670	GFAP	Pathogenic	59628143	RCV000192176; RCV000056835;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988610	42988610	NM_002055.4:c.1121A>G	NP_002046.1:p.Glu374Gly	NC_000017.10:g.42988610T>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1118A>C (p.Glu373Ala)	2670	GFAP	Pathogenic	797044589	RCV000192175;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988613	42988613	NM_002055.4:c.1118A>C	NP_002046.1:p.Glu373Ala	NC_000017.10:g.42988613T>G	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1117G>A (p.Glu373Lys)	2670	GFAP	Pathogenic	58075601	RCV000192173; RCV000056833;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988614	42988614	NM_002055.4:c.1117G>A	NP_002046.1:p.Glu373Lys	NC_000017.10:g.42988614C>G,NC_000017.10:g.42988614C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1117G>C (p.Glu373Gln)	2670	GFAP	Pathogenic	58075601	RCV000192174; RCV000056834;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988614	42988614	NM_002055.4:c.1117G>C	NP_002046.1:p.Glu373Gln	NC_000017.10:g.42988614C>G,NC_000017.10:g.42988614C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1112A>G (p.Glu371Gly)	2670	GFAP	Pathogenic	57815192	RCV000192170; RCV000056831;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988619	42988619	NM_002055.4:c.1112A>G	NP_002046.1:p.Glu371Gly	NC_000017.10:g.42988619T>A,NC_000017.10:g.42988619T>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1112A>T (p.Glu371Val)	2670	GFAP	Pathogenic	57815192	RCV000192171; RCV000056832;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988619	42988619	NM_002055.4:c.1112A>T	NP_002046.1:p.Glu371Val	NC_000017.10:g.42988619T>A,NC_000017.10:g.42988619T>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1111G>C (p.Glu371Gln)	2670	GFAP	Pathogenic	267607526	RCV000192169; RCV000056830;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988620	42988620	NM_002055.4:c.1111G>C	NP_002046.1:p.Glu371Gln	NC_000017.10:g.42988620C>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1097A>G (p.Tyr366Cys)	2670	GFAP	Pathogenic	267607502	RCV000192168; RCV000056829;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988634	42988634	NM_002055.4:c.1097A>G	NP_002046.1:p.Tyr366Cys	NC_000017.10:g.42988634T>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1096T>C (p.Tyr366His)	2670	GFAP	Pathogenic	58008462	RCV000192167; RCV000056828;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988635	42988635	NM_002055.4:c.1096T>C	NP_002046.1:p.Tyr366His	NC_000017.10:g.42988635A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1091C>T (p.Ala364Val)	2670	GFAP	Pathogenic	267607503	RCV000192166; RCV000056827;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988640	42988640	NM_002055.4:c.1091C>T	NP_002046.1:p.Ala364Val	NC_000017.10:g.42988640G>A	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1090G>C (p.Ala364Pro)	2670	GFAP	Pathogenic	58645997	RCV000192165; RCV000056826;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988641	42988641	NM_002055.4:c.1090G>C	NP_002046.1:p.Ala364Pro	NC_000017.10:g.42988641C>G,NC_000017.10:g.42988641C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1090G>A (p.Ala364Thr)	2670	GFAP	Pathogenic	58645997	RCV000192164;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988641	42988641	NM_002055.4:c.1090G>A	NP_002046.1:p.Ala364Thr	NC_000017.10:g.42988641C>G,NC_000017.10:g.42988641C>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1086G>C (p.Glu362Asp)	2670	GFAP	Pathogenic	121909718	RCV000017559; RCV000056825;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988645	42988645	NM_002055.4:c.1086G>C	NP_002046.1:p.Glu362Asp	NC_000017.10:g.42988645C>G	OMIM Allelic Variant:137780.0010	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1085A>G (p.Glu362Gly)	2670	GFAP	Pathogenic	797044588	RCV000192163;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988646	42988646	NM_002055.4:c.1085A>G	NP_002046.1:p.Glu362Gly	NC_000017.10:g.42988646T>C	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1079A>T (p.Asp360Val)	2670	GFAP	Pathogenic	62636501	RCV000192162; RCV000056824;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988652	42988652	NM_002055.4:c.1079A>T	NP_002046.1:p.Asp360Val	NC_000017.10:g.42988652T>A	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1076T>C (p.Leu359Pro)	2670	GFAP	Pathogenic	267607511	RCV000192161; RCV000056823;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988655	42988655	NM_002055.4:c.1076T>C	NP_002046.1:p.Leu359Pro	NC_000017.10:g.42988655A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1075C>G (p.Leu359Val)	2670	GFAP	Pathogenic	60825166	RCV000192160; RCV000056822;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988656	42988656	NM_002055.4:c.1075C>G	NP_002046.1:p.Leu359Val	NC_000017.10:g.42988656G>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1074C>G (p.Ala358=)	2670	GFAP	Pathogenic	797044587	RCV000192159;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988657	42988657	NM_002055.4:c.1074C>G	NP_002046.1:p.Ala358=	NC_000017.10:g.42988657G>C	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1073C>T (p.Ala358Val)	2670	GFAP	Pathogenic	797044586	RCV000192158;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988658	42988658	NM_002055.4:c.1073C>T	NP_002046.1:p.Ala358Val	NC_000017.10:g.42988658G>A	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1070T>C (p.Leu357Pro)	2670	GFAP	Pathogenic	267607515	RCV000192157; RCV000056821;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988661	42988661	NM_002055.4:c.1070T>C	NP_002046.1:p.Leu357Pro	NC_000017.10:g.42988661A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1055T>C (p.Leu352Pro)	2670	GFAP	Pathogenic	28932769	RCV000017561; RCV000056820;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988676	42988676	NM_002055.4:c.1055T>C	NP_002046.1:p.Leu352Pro	NC_000017.10:g.42988676A>G	OMIM Allelic Variant:137780.0012	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.1051G>C (p.Asp351His)	2670	GFAP	Pathogenic	797044585	RCV000192156;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988680	42988680	NM_002055.4:c.1051G>C	NP_002046.1:p.Asp351His	NC_000017.10:g.42988680C>G	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.1047_1048insCACTTG (p.Tyr349_Gln350insHisLeu)	2670	GFAP	Pathogenic	797044584	RCV000192155;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988683	42988684	NM_002055.4:c.1047_1048insCACTTG	NP_002046.1:p.Tyr349_Gln350insHisLeu	NC_000017.10:g.42988683_42988684insCAAGTG	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.994G>A (p.Glu332Lys)	2670	GFAP	Pathogenic	267607514	RCV000192154; RCV000056919; RCV000192152;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988737	42988737	NM_002055.4:c.994G>A	NP_002046.1:p.Glu332Lys	NC_000017.10:g.42988737C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.994G>A (p.Glu332Lys)	2670	GFAP	Pathogenic	267607514	RCV000192154; RCV000056919; RCV000192152;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988737	42988737	NM_002055.4:c.994G>A	NP_002046.1:p.Glu332Lys	NC_000017.10:g.42988737C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.992T>C (p.Leu331Pro)	2670	GFAP	Pathogenic	59985777	RCV000192153; RCV000056918;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988739	42988739	NM_002055.4:c.992T>C	NP_002046.1:p.Leu331Pro	NC_000017.10:g.42988739A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.988C>G (p.Arg330Gly)	2670	GFAP	Pathogenic	267607513	RCV000056917; RCV000192152;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988743	42988743	NM_002055.4:c.988C>G	NP_002046.1:p.Arg330Gly	NC_000017.10:g.42988743G>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.988C>G (p.Arg330Gly)	2670	GFAP	Pathogenic	267607513	RCV000056917; RCV000192152;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42988743	42988743	NM_002055.4:c.988C>G	NP_002046.1:p.Arg330Gly	NC_000017.10:g.42988743G>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.934G>T (p.Glu312Ter)	2670	GFAP	Pathogenic	763868966	RCV000192151;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42988797	42988797	NM_002055.4:c.934G>T	NP_002046.1:p.Glu312Ter	NC_000017.10:g.42988797C>A	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.868C>G (p.Gln290Glu)	2670	GFAP	Pathogenic	797044583	RCV000192150;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42989078	42989078	NM_002055.4:c.868C>G	NP_002046.1:p.Gln290Glu	NC_000017.10:g.42989078G>C	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.835A>G (p.Lys279Glu)	2670	GFAP	Pathogenic	58536923	RCV000192149; RCV000056911;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42989111	42989111	NM_002055.4:c.835A>G	NP_002046.1:p.Lys279Glu	NC_000017.10:g.42989111T>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.827G>T (p.Arg276Leu)	2670	GFAP	Pathogenic	121909719	RCV000017560; RCV000056910;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42989119	42989119	NM_002055.4:c.827G>T	NP_002046.1:p.Arg276Leu	NC_000017.10:g.42989119C>A	OMIM Allelic Variant:137780.0011	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.803C>A (p.Ala268Asp)	2670	GFAP	Pathogenic	797044582	RCV000192148;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42989143	42989143	NM_002055.4:c.803C>A	NP_002046.1:p.Ala268Asp	NC_000017.10:g.42989143G>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.799G>C (p.Ala267Pro)	2670	GFAP	Pathogenic	797044581	RCV000192147;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42989147	42989147	NM_002055.4:c.799G>C	NP_002046.1:p.Ala267Pro	NC_000017.10:g.42989147C>G	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.791_792delTGinsCT (p.Leu264Pro)	2670	GFAP	Pathogenic	797044580	RCV000192146;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42989154	42989155	NM_002055.4:c.791_792delTGinsCT	NP_002046.1:p.Leu264Pro	NC_000017.10:g.42989154_42989155delCAinsAG	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.791T>C (p.Leu264Pro)	2670	GFAP	Pathogenic	797044579	RCV000192145;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42989155	42989155	NM_002055.4:c.791T>C	NP_002046.1:p.Leu264Pro	NC_000017.10:g.42989155A>G	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.773G>C (p.Arg258Pro)	2670	GFAP	Pathogenic	61726468	RCV000192144; RCV000056908;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990644	42990644	NM_002055.4:c.773G>C	NP_002046.1:p.Arg258Pro	NC_000017.10:g.42990644C>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.772C>T (p.Arg258Cys)	2670	GFAP	Pathogenic	797044578	RCV000192143;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42990645	42990645	NM_002055.4:c.772C>T	NP_002046.1:p.Arg258Cys	NC_000017.10:g.42990645G>A	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.770A>G (p.Tyr257Cys)	2670	GFAP	Pathogenic	267607505	RCV000192142; RCV000056907;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990647	42990647	NM_002055.4:c.770A>G	NP_002046.1:p.Tyr257Cys	NC_000017.10:g.42990647T>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.758C>G (p.Ala253Gly)	2670	GFAP	Pathogenic	61726470	RCV000192141; RCV000056905;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990659	42990659	NM_002055.4:c.758C>G	NP_002046.1:p.Ala253Gly	NC_000017.10:g.42990659G>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.739T>C (p.Ser247Pro)	2670	GFAP	Pathogenic	267607519	RCV000192140; RCV000056904;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990678	42990678	NM_002055.4:c.739T>C	NP_002046.1:p.Ser247Pro	NC_000017.10:g.42990678A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.731C>T (p.Ala244Val)	2670	GFAP	Pathogenic	61497286	RCV000192139; RCV000056903;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990686	42990686	NM_002055.4:c.731C>T	NP_002046.1:p.Ala244Val	NC_000017.10:g.42990686G>A	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.724T>G (p.Tyr242Asp)	2670	GFAP	Pathogenic	60551555	RCV000192138; RCV000056902;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990693	42990693	NM_002055.4:c.724T>G	NP_002046.1:p.Tyr242Asp	NC_000017.10:g.42990693A>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.716G>A (p.Arg239His)	2670	GFAP	Pathogenic	59565950	RCV000017551; RCV000056899;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990701	42990701	NM_002055.4:c.716G>A	NP_002046.1:p.Arg239His	NC_000017.10:g.42990701C>A,NC_000017.10:g.42990701C>G,NC_000017.10:g.42990701C>T	OMIM Allelic Variant:137780.0002	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.716G>C (p.Arg239Pro)	2670	GFAP	Pathogenic	59565950	RCV000192136; RCV000056900;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990701	42990701	NM_002055.4:c.716G>C	NP_002046.1:p.Arg239Pro	NC_000017.10:g.42990701C>A,NC_000017.10:g.42990701C>G,NC_000017.10:g.42990701C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.716G>T (p.Arg239Leu)	2670	GFAP	Pathogenic	59565950	RCV000192137; RCV000056901;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990701	42990701	NM_002055.4:c.716G>T	NP_002046.1:p.Arg239Leu	NC_000017.10:g.42990701C>A,NC_000017.10:g.42990701C>G,NC_000017.10:g.42990701C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.715C>T (p.Arg239Cys)	2670	GFAP	Pathogenic	58064122	RCV000017550; RCV000056898;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990702	42990702	NM_002055.4:c.715C>T	NP_002046.1:p.Arg239Cys	NC_000017.10:g.42990702G>A,NC_000017.10:g.42990702G>C	OMIM Allelic Variant:137780.0001	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.715C>G (p.Arg239Gly)	2670	GFAP	Pathogenic	58064122	RCV000192135;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42990702	42990702	NM_002055.4:c.715C>G	NP_002046.1:p.Arg239Gly	NC_000017.10:g.42990702G>A,NC_000017.10:g.42990702G>C	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.707A>C (p.Lys236Thr)	2670	GFAP	Pathogenic	267607525	RCV000192134; RCV000056897;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990710	42990710	NM_002055.4:c.707A>C	NP_002046.1:p.Lys236Thr	NC_000017.10:g.42990710T>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.704T>C (p.Leu235Pro)	2670	GFAP	Pathogenic	60269890	RCV000192133; RCV000056896;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990713	42990713	NM_002055.4:c.704T>C	NP_002046.1:p.Leu235Pro	NC_000017.10:g.42990713A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.692T>A (p.Leu231His)	2670	GFAP	Pathogenic	797044577	RCV000192132;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42990725	42990725	NM_002055.4:c.692T>A	NP_002046.1:p.Leu231His	NC_000017.10:g.42990725A>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.667G>C (p.Glu223Gln)	2670	GFAP	Pathogenic	56679084	RCV000192131; RCV000056895; RCV000192110;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990750	42990750	NM_002055.4:c.667G>C	NP_002046.1:p.Glu223Gln	NC_000017.10:g.42990750C>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.667G>C (p.Glu223Gln)	2670	GFAP	Pathogenic	56679084	RCV000192131; RCV000056895; RCV000192110;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990750	42990750	NM_002055.4:c.667G>C	NP_002046.1:p.Glu223Gln	NC_000017.10:g.42990750C>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.628G>A (p.Glu210Lys)	2670	GFAP	Pathogenic	57661783	RCV000192130; RCV000056894;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990789	42990789	NM_002055.4:c.628G>A	NP_002046.1:p.Glu210Lys	NC_000017.10:g.42990789C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.619G>A (p.Glu207Lys)	2670	GFAP	Pathogenic	267607500	RCV000192128; RCV000056892;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990798	42990798	NM_002055.4:c.619G>A	NP_002046.1:p.Glu207Lys	NC_000017.10:g.42990798C>G,NC_000017.10:g.42990798C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.619G>C (p.Glu207Gln)	2670	GFAP	Pathogenic	267607500	RCV000192129; RCV000056893;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42990798	42990798	NM_002055.4:c.619G>C	NP_002046.1:p.Glu207Gln	NC_000017.10:g.42990798C>G,NC_000017.10:g.42990798C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.619-3C>G (p.Glu207_Lys260del)	2670	GFAP	Pathogenic	112611995	RCV000192191;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42990801	42990801	NM_002055.4:c.619-3C>G	NP_002046.1:p.Glu207_Lys260del	NC_000017.10:g.42990801G>C	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.613G>A (p.Glu205Lys)	2670	GFAP	Pathogenic	267607507	RCV000192127; RCV000056889;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42991101	42991101	NM_002055.4:c.613G>A	NP_002046.1:p.Glu205Lys	NC_000017.10:g.42991101C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.382G>A (p.Asp128Asn)	2670	GFAP	Pathogenic	267607509	RCV000192126; RCV000056885;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992473	42992473	NM_002055.4:c.382G>A	NP_002046.1:p.Asp128Asn	NC_000017.10:g.42992473C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.375_380dupGCGGCT (p.Leu127_Asp128insArgLeu)	2670	GFAP	Pathogenic	797044576	RCV000192125;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992475	42992480	NM_002055.4:c.375_380dupGCGGCT	NP_002046.1:p.Leu127_Asp128insArgLeu	NC_000017.10:g.42992475_42992480dupAGCCGC	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.365_373dupAGCTGCGGC (p.Arg124_Leu125insGlnLeuArg)	2670	GFAP	Pathogenic	797044575	RCV000192124;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992482	42992490	NM_002055.4:c.365_373dupAGCTGCGGC	NP_002046.1:p.Arg124_Leu125insGlnLeuArg	NC_000017.10:g.42992482_42992490dupGCCGCAGCT	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.302T>C (p.Leu101Pro)	2670	GFAP	Pathogenic	267607516	RCV000192123; RCV000056882;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992553	42992553	NM_002055.4:c.302T>C	NP_002046.1:p.Leu101Pro	NC_000017.10:g.42992553A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.290T>C (p.Leu97Pro)	2670	GFAP	Pathogenic	59568967	RCV000192122; RCV000056881;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992565	42992565	NM_002055.4:c.290T>C	NP_002046.1:p.Leu97Pro	NC_000017.10:g.42992565A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.278A>C (p.Gln93Pro)	2670	GFAP	Pathogenic	797044574	RCV000192121;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992577	42992577	NM_002055.4:c.278A>C	NP_002046.1:p.Gln93Pro	NC_000017.10:g.42992577T>G	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.269T>C (p.Leu90Pro)	2670	GFAP	Pathogenic	59661476	RCV000192120; RCV000056880;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992586	42992586	NM_002055.4:c.269T>C	NP_002046.1:p.Leu90Pro	NC_000017.10:g.42992586A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.262C>T (p.Arg88Cys)	2670	GFAP	Pathogenic	61622935	RCV000017555; RCV000056879;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992593	42992593	NM_002055.4:c.262C>T	NP_002046.1:p.Arg88Cys	NC_000017.10:g.42992593G>A,NC_000017.10:g.42992593G>T	OMIM Allelic Variant:137780.0006	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.262C>A (p.Arg88Ser)	2670	GFAP	Pathogenic	61622935	RCV000017556; RCV000056878;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992593	42992593	NM_002055.4:c.262C>A	NP_002046.1:p.Arg88Ser	NC_000017.10:g.42992593G>A,NC_000017.10:g.42992593G>T	OMIM Allelic Variant:137780.0007	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.260T>G (p.Val87Gly)	2670	GFAP	Pathogenic	60449251	RCV000192119; RCV000056877;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992595	42992595	NM_002055.4:c.260T>G	NP_002046.1:p.Val87Gly	NC_000017.10:g.42992595A>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.256_259delAAGGinsGAGT (p.Lys86_Val87delinsGluPhe)	2670	GFAP	Pathogenic	267607501	RCV000192116; RCV000056874;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992596	42992599	NM_002055.4:c.256_259delAAGGinsGAGT	NP_002046.1:p.Lys86_Val87delinsGluPhe	NC_000017.10:g.42992596_42992599delCCTTinsACTC	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.259G>C (p.Val87Leu)	2670	GFAP	Pathogenic	267607518	RCV000192118; RCV000056876;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992596	42992596	NM_002055.4:c.259G>C	NP_002046.1:p.Val87Leu	NC_000017.10:g.42992596C>G,NC_000017.10:g.42992596C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.259G>A (p.Val87Ile)	2670	GFAP	Pathogenic	267607518	RCV000192117;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992596	42992596	NM_002055.4:c.259G>A	NP_002046.1:p.Val87Ile	NC_000017.10:g.42992596C>G,NC_000017.10:g.42992596C>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.256A>G (p.Lys86Glu)	2670	GFAP	Pathogenic	797044573	RCV000192115;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992599	42992599	NM_002055.4:c.256A>G	NP_002046.1:p.Lys86Glu	NC_000017.10:g.42992599T>C	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.247T>C (p.Tyr83His)	2670	GFAP	Pathogenic	267607506	RCV000192114; RCV000056872;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992608	42992608	NM_002055.4:c.247T>C	NP_002046.1:p.Tyr83His	NC_000017.10:g.42992608A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.239T>C (p.Phe80Ser)	2670	GFAP	Pathogenic	797044572	RCV000192113;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992616	42992616	NM_002055.4:c.239T>C	NP_002046.1:p.Phe80Ser	NC_000017.10:g.42992616A>G	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.236G>A (p.Arg79His)	2670	GFAP	Pathogenic	59285727	RCV000017553; RCV000056869; RCV000192110;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992619	42992619	NM_002055.4:c.236G>A	NP_002046.1:p.Arg79His	NC_000017.10:g.42992619C>A,NC_000017.10:g.42992619C>G,NC_000017.10:g.42992619C>T	OMIM Allelic Variant:137780.0004	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.236G>A (p.Arg79His)	2670	GFAP	Pathogenic	59285727	RCV000017553; RCV000056869; RCV000192110;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992619	42992619	NM_002055.4:c.236G>A	NP_002046.1:p.Arg79His	NC_000017.10:g.42992619C>A,NC_000017.10:g.42992619C>G,NC_000017.10:g.42992619C>T	OMIM Allelic Variant:137780.0004	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.236G>C (p.Arg79Pro)	2670	GFAP	Pathogenic	59285727	RCV000192111; RCV000056870;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992619	42992619	NM_002055.4:c.236G>C	NP_002046.1:p.Arg79Pro	NC_000017.10:g.42992619C>A,NC_000017.10:g.42992619C>G,NC_000017.10:g.42992619C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.236G>T (p.Arg79Leu)	2670	GFAP	Pathogenic	59285727	RCV000192112; RCV000056871;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992619	42992619	NM_002055.4:c.236G>T	NP_002046.1:p.Arg79Leu	NC_000017.10:g.42992619C>A,NC_000017.10:g.42992619C>G,NC_000017.10:g.42992619C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.235C>T (p.Arg79Cys)	2670	GFAP	Pathogenic	59793293	RCV000017554; RCV000056868;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992620	42992620	NM_002055.4:c.235C>T	NP_002046.1:p.Arg79Cys	NC_000017.10:g.42992620G>A,NC_000017.10:g.42992620G>C,NC_000017.10:g.42992620G>T	OMIM Allelic Variant:137780.0005	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.235C>G (p.Arg79Gly)	2670	GFAP	Pathogenic	59793293	RCV000192109; RCV000056867;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992620	42992620	NM_002055.4:c.235C>G	NP_002046.1:p.Arg79Gly	NC_000017.10:g.42992620G>A,NC_000017.10:g.42992620G>C,NC_000017.10:g.42992620G>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.234C>A (p.Asp78Glu)	2670	GFAP	Pathogenic	121909720	RCV000017562;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992621	42992621	NM_002055.4:c.234C>A	NP_002046.1:p.Asp78Glu	NC_000017.10:g.42992621G>T	OMIM Allelic Variant:137780.0013	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.232G>A (p.Asp78Asn)	2670	GFAP	Pathogenic	797044571	RCV000192108;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992623	42992623	NM_002055.4:c.232G>A	NP_002046.1:p.Asp78Asn	NC_000017.10:g.42992623C>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.230A>G (p.Asn77Ser)	2670	GFAP	Pathogenic	57590980	RCV000192107; RCV000056865;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992625	42992625	NM_002055.4:c.230A>G	NP_002046.1:p.Asn77Ser	NC_000017.10:g.42992625T>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.229A>T (p.Asn77Tyr)	2670	GFAP	Pathogenic	58732244	RCV000017558; RCV000056864;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992626	42992626	NM_002055.4:c.229A>T	NP_002046.1:p.Asn77Tyr	NC_000017.10:g.42992626T>A	OMIM Allelic Variant:137780.0009	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.226C>T (p.Leu76Phe)	2670	GFAP	Pathogenic	57120761	RCV000017557; RCV000056863;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992629	42992629	NM_002055.4:c.226C>T	NP_002046.1:p.Leu76Phe	NC_000017.10:g.42992629G>A,NC_000017.10:g.42992629G>C	OMIM Allelic Variant:137780.0008	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.226C>G (p.Leu76Val)	2670	GFAP	Pathogenic	57120761	RCV000192106; RCV000056862;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992629	42992629	NM_002055.4:c.226C>G	NP_002046.1:p.Leu76Val	NC_000017.10:g.42992629G>A,NC_000017.10:g.42992629G>C	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.221T>C (p.Met74Thr)	2670	GFAP	Pathogenic	267607504	RCV000192102; RCV000056861;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992634	42992634	NM_002055.4:c.221T>C	NP_002046.1:p.Met74Thr	NC_000017.10:g.42992634A>G	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.218T>A (p.Met73Lys)	2670	GFAP	Pathogenic	61060395	RCV000192105; RCV000056859;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992637	42992637	NM_002055.4:c.218T>A	NP_002046.1:p.Met73Lys	NC_000017.10:g.42992637A>C,NC_000017.10:g.42992637A>G,NC_000017.10:g.42992637A>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.218T>G (p.Met73Arg)	2670	GFAP	Pathogenic	61060395	RCV000192104; RCV000056860;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992637	42992637	NM_002055.4:c.218T>G	NP_002046.1:p.Met73Arg	NC_000017.10:g.42992637A>C,NC_000017.10:g.42992637A>G,NC_000017.10:g.42992637A>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.218T>C (p.Met73Thr)	2670	GFAP	Pathogenic	61060395	RCV000192103;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992637	42992637	NM_002055.4:c.218T>C	NP_002046.1:p.Met73Thr	NC_000017.10:g.42992637A>C,NC_000017.10:g.42992637A>G,NC_000017.10:g.42992637A>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.214G>A (p.Glu72Lys)	2670	GFAP	Pathogenic	267607523	RCV000192101; RCV000056858;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992641	42992641	NM_002055.4:c.214G>A	NP_002046.1:p.Glu72Lys	NC_000017.10:g.42992641C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.209G>A (p.Arg70Gln)	2670	GFAP	Pathogenic	267607510	RCV000192099; RCV000056856;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992646	42992646	NM_002055.4:c.209G>A	NP_002046.1:p.Arg70Gln	NC_000017.10:g.42992646C>T	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.208C>T (p.Arg70Trp)	2670	GFAP	Pathogenic	60343255	RCV000192100; RCV000056855;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992647	42992647	NM_002055.4:c.208C>T	NP_002046.1:p.Arg70Trp	NC_000017.10:g.42992647G>A	-	C0270726 203450 Alexander's disease; CN221809 not provided
NM_002055.4(GFAP):c.205G>A (p.Glu69Lys)	2670	GFAP	Pathogenic	797044570	RCV000192098;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992650	42992650	NM_002055.4:c.205G>A	NP_002046.1:p.Glu69Lys	NC_000017.10:g.42992650C>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.197G>A (p.Arg66Gln)	2670	GFAP	Pathogenic	797044569	RCV000192097;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007	17	42992658	42992658	NM_002055.4:c.197G>A	NP_002046.1:p.Arg66Gln	NC_000017.10:g.42992658C>T	-	C0270726 203450 Alexander's disease
NM_002055.4(GFAP):c.187A>C (p.Lys63Gln)	2670	GFAP	Pathogenic	60095124	RCV000192096; RCV000056854;	N	MedGen:C0270726,OMIM:203450,ORPHA:58,SNOMED CT:81854007; MedGen:CN221809	17	42992668	42992668	NM_002055.4:c.187A>C	NP_002046.1:p.Lys63Gln	NC_000017.10:g.42992668T>G	-	C0270726 203450 Alexander's disease; CN221809 not provided