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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Spinocerebellar Degenerations (D013132)
..Starting node ..Spinocerebellar ataxia 14 (C537196)
Child Nodes:
Sister Nodes:
..Corneal cerebellar syndrome (C535472)
..Friedreich Ataxia (D005621) 6
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Hereditary spinal ataxia (C531684)
..Infantile onset spinocerebellar ataxia (C535523) 1
..Mousa Al din Al Nassar syndrome (C536989)
..Myoclonic Cerebellar Dyssynergia (D002527) 1
..Olivopontocerebellar Atrophies (D009849) 15
..Posterior column ataxia (C536342)
..Sensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar ataxia 19 (C537198)
..Spinocerebellar ataxia 21 (C537200)
..Spinocerebellar ataxia 22 (C542540)
..Spinocerebellar ataxia 23 (C537201)
..Spinocerebellar ataxia 27 (C537204)
..Spinocerebellar ataxia 28 (C537205)
..Spinocerebellar Ataxia 29 (C537206)
..Spinocerebellar ataxia 8 (C537307)
..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
..Spinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..Spinocerebellar ataxia, autosomal recessive 3 (C537309)
..Spinocerebellar ataxia, autosomal recessive 4 (C537310)
..Spinocerebellar ataxia, autosomal recessive 5 (C537311)
..Spinocerebellar ataxia, autosomal recessive 6 (C537312)
..Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..Spinocerebellar ataxia, X-linked, 2 (C537314)
..Spinocerebellar ataxia, X-linked, 4 (C537316)
..Spinocerebellar Ataxias (D020754) 34
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10496

Name:

Spinocerebellar ataxia 14

Definition:

Alternative IDs:

OMIM:605361

ParentIDs:

MESH:D013132

TreeNumbers:

C10.228.140.252.700/C537196 |C10.228.854.787/C537196 |C10.574.500.825/C537196 |C16.320.400.780/C537196

Synonyms:

SCA14

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537196
MeSH: C537196
OMIM: 605361;

Genes: PRKCG;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007018	Attention deficit hyperactivity disorder
3	HP:0001272	Cerebellar atrophy
4	HP:0000716	Depression
5	HP:0001260	Dysarthria
6	HP:0001310	Dysmetria
7	HP:0002015	Dysphagia
8	HP:0000317	Facial myokymia
9	HP:0004373	Focal dystonia
10	HP:0002066	Gait ataxia
11	HP:0001347	Hyperreflexia
12	HP:0006938	Impaired vibration sensation at ankles
13	HP:0003829	Incomplete penetrance
14	HP:0002354	Memory impairment
15	HP:0001268	Mental deterioration
16	HP:0000639	Nystagmus
17	HP:0002073	Progressive cerebellar ataxia
18	HP:0003677	Slowly progressive

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_002739.4(PRKCG):c.76A>G (p.Arg26Gly)	5582	PRKCG	Pathogenic	386134157	RCV000035003;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54385824	54385824	NM_002739.4:c.76A>G	NP_002730.1:p.Arg26Gly	NC_000019.9:g.54385824A>G	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.122G>C (p.Arg41Pro)	5582	PRKCG	Pathogenic	386134158	RCV000034959;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54385870	54385870	NM_002739.4:c.122G>C	NP_002730.1:p.Arg41Pro	NC_000019.9:g.54385870G>C	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.154T>A (p.Cys52Ser)	5582	PRKCG	Likely pathogenic	797045900	RCV000194843;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54385902	54385902	NM_002739.4:c.154T>A	NP_002730.1:p.Cys52Ser	NC_000019.9:g.54385902T>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.188G>T (p.Gly63Val)	5582	PRKCG	Pathogenic	386134159	RCV000034967;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54386434	54386434	NM_002739.4:c.188G>T	NP_002730.1:p.Gly63Val	NC_000019.9:g.54386434G>T	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.229T>A (p.Cys77Ser)	5582	PRKCG	Pathogenic	386134160	RCV000034975;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54387441	54387441	NM_002739.4:c.229T>A	NP_002730.1:p.Cys77Ser	NC_000019.9:g.54387441T>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.296_301delACAAAC (p.His101_Lys102del)	5582	PRKCG	Pathogenic	386134161	RCV000034984;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392902	54392907	NM_002739.4:c.296_301delACAAAC	NP_002730.1:p.His101_Lys102del	NC_000019.9:g.54392902_54392907delACAAAC	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.301C>T (p.His101Tyr)	5582	PRKCG	Pathogenic	121918511	RCV000014149;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392907	54392907	NM_002739.4:c.301C>T	NP_002730.1:p.His101Tyr	NC_000019.9:g.54392907C>T	OMIM Allelic Variant:176980.0001	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.303C>G (p.His101Gln)	5582	PRKCG	Pathogenic	121918518	RCV000014156;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392909	54392909	NM_002739.4:c.303C>G	NP_002730.1:p.His101Gln	NC_000019.9:g.54392909C>G	OMIM Allelic Variant:176980.0008	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.341G>A (p.Cys114Tyr)	5582	PRKCG	Pathogenic	386134162	RCV000034988;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392947	54392947	NM_002739.4:c.341G>A	NP_002730.1:p.Cys114Tyr	NC_000019.9:g.54392947G>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.353G>A (p.Gly118Asp)	5582	PRKCG	Pathogenic	121918514	RCV000014152;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392959	54392959	NM_002739.4:c.353G>A	NP_002730.1:p.Gly118Asp	NC_000019.9:g.54392959G>A	OMIM Allelic Variant:176980.0004	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.355T>C (p.Ser119Pro)	5582	PRKCG	Pathogenic	121918512	RCV000014150;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392961	54392961	NM_002739.4:c.355T>C	NP_002730.1:p.Ser119Pro	NC_000019.9:g.54392961T>C	OMIM Allelic Variant:176980.0002	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.356C>T (p.Ser119Phe)	5582	PRKCG	Pathogenic	386134163	RCV000034990;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392962	54392962	NM_002739.4:c.356C>T	NP_002730.1:p.Ser119Phe	NC_000019.9:g.54392962C>T	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.367G>A (p.Gly123Arg)	5582	PRKCG	Pathogenic	386134164	RCV000034991;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392973	54392973	NM_002739.4:c.367G>A	NP_002730.1:p.Gly123Arg	NC_000019.9:g.54392973G>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.368G>A (p.Gly123Glu)	5582	PRKCG	Pathogenic	386134165	RCV000034992;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392974	54392974	NM_002739.4:c.368G>A	NP_002730.1:p.Gly123Glu	NC_000019.9:g.54392974G>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.380A>G (p.Gln127Arg)	5582	PRKCG	Pathogenic	121918515	RCV000014153;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392986	54392986	NM_002739.4:c.380A>G	NP_002730.1:p.Gln127Arg	NC_000019.9:g.54392986A>G	OMIM Allelic Variant:176980.0005	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.383G>A (p.Gly128Asp)	5582	PRKCG	Pathogenic	121918513	RCV000014151;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392989	54392989	NM_002739.4:c.383G>A	NP_002730.1:p.Gly128Asp	NC_000019.9:g.54392989G>A	OMIM Allelic Variant:176980.0003	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.391T>C (p.Cys131Arg)	5582	PRKCG	Pathogenic	386134166	RCV000034993;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392997	54392997	NM_002739.4:c.391T>C	NP_002730.1:p.Cys131Arg	NC_000019.9:g.54392997T>C	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.392G>A (p.Cys131Tyr)	5582	PRKCG	Pathogenic	386134167	RCV000034994;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54392998	54392998	NM_002739.4:c.392G>A	NP_002730.1:p.Cys131Tyr	NC_000019.9:g.54392998G>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.413T>A (p.Val138Glu)	5582	PRKCG	Pathogenic	386134168	RCV000034996;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54393155	54393155	NM_002739.4:c.413T>A	NP_002730.1:p.Val138Glu	NC_000019.9:g.54393155T>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.417C>A (p.His139Gln)	5582	PRKCG	Pathogenic	386134169	RCV000034998;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54393159	54393159	NM_002739.4:c.417C>A	NP_002730.1:p.His139Gln	NC_000019.9:g.54393159C>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.449_450delGCinsTT (p.Cys150Phe)	5582	PRKCG	Pathogenic	386134170	RCV000034997;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54393191	54393192	NM_002739.4:c.449_450delGCinsTT	NP_002730.1:p.Cys150Phe	NC_000019.9:g.54393191_54393192delGCinsTT	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.1078G>A (p.Gly360Ser)	5582	PRKCG	Pathogenic	386134171	RCV000034956;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54401351	54401351	NM_002739.4:c.1078G>A	NP_002730.1:p.Gly360Ser	NC_000019.9:g.54401351G>A	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.1081A>G (p.Ser361Gly)	5582	PRKCG	Pathogenic	121918517	RCV000014155;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54401354	54401354	NM_002739.4:c.1081A>G	NP_002730.1:p.Ser361Gly	NC_000019.9:g.54401354A>G	OMIM Allelic Variant:176980.0007	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.1438G>T (p.Asp480Tyr)	5582	PRKCG	Pathogenic	387906679	RCV000022737;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54403866	54403866	NM_002739.4:c.1438G>T	NP_002730.1:p.Asp480Tyr	NC_000019.9:g.54403866G>T	OMIM Allelic Variant:176980.0011	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.1927T>C (p.Phe643Leu)	5582	PRKCG	Pathogenic	121918516	RCV000014154;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54409982	54409982	NM_002739.4:c.1927T>C	NP_002730.1:p.Phe643Leu	NC_000019.9:g.54409982T>C	OMIM Allelic Variant:176980.0006	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.2075T>G (p.Val692Gly)	5582	PRKCG	Pathogenic	78437096	RCV000034972;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54410130	54410130	NM_002739.4:c.2075T>G	NP_002730.1:p.Val692Gly	NC_000019.9:g.54410130T>G	-	C1854369 605361 Spinocerebellar ataxia 14
NM_002739.4(PRKCG):c.2091_*98del102	5582	PRKCG	Pathogenic	-1	RCV000014157;	N	MedGen:C1854369,OMIM:605361,ORPHA:98763	19	54410146	54410247	NM_002739.4:c.2091_*98del102			OMIM Allelic Variant:176980.0009,dbVar:nssv3761609,dbVar:nsv1067876	C1854369 605361 Spinocerebellar ataxia 14