MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Spinocerebellar Ataxias (D020754)
..Starting node ..Spinocerebellar Ataxia 15 (C564685)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245) L: 00036;
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 28 (C537205) L: 00498;
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11545

Name:

Spinocerebellar Ataxia 15

Definition:

Alternative IDs:

OMIM:606658

ParentIDs:

MESH:D020754

TreeNumbers:

C10.228.140.252.190.530/C564685 |C10.228.140.252.700.700/C564685 |C10.228.854.787.875/C564685 |C10.574.500.825.700/C564685 |C10.597.350.090.500.530/C564685 |C16.320.400.780.875/C564685

Synonyms:

SCA15 |SCA16, FORMERLY |SPINOCEREBELLAR ATAXIA 16, FORMERLY

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C564685
MeSH: C564685
OMIM: 606658;
MSeqDR :
Genes: ITPR1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0003621	Juvenile onset
4	HP:0001272	Cerebellar atrophy
5	HP:0001260	Dysarthria NAMDC: Dysarthria
6	HP:0000641	Dysmetric saccades
7	HP:0002066	Gait ataxia
8	HP:0007979	Gaze-evoked horizontal nystagmus
9	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
10	HP:0007772	Impaired smooth pursuit
11	HP:0002070	Limb ataxia
12	HP:0002174	Postural tremor
13	HP:0002168	Scanning speech
14	HP:0003677	Slow progression
15	HP:0002078	Truncal ataxia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)	3708	ITPR1	Benign	rs200534989	RCV000312548\|RCV000973470\|RCV001288648\|RCV002488746;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431	3	4558232	4558232	NC_000003.11:g.4558232G>A	ClinGen:CA2230782	CN227858 Spinocerebellar Ataxia, Dominant;
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)	3708	ITPR1	Likely pathogenic	rs1559603328	RCV000782008\|RCV001334024;	N	MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4687297	4687299	NC_000003.11:g.4687299_4687301del	-
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)	3708	ITPR1	Pathogenic/Likely pathogenic	-1	RCV001545840\|RCV001729945;	N	MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4687305	4687305	4687305	-
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	3708	ITPR1	Conflicting interpretations of pathogenicity	rs886039392	RCV000254736\|RCV000623132\|RCV000677359\|RCV000850563\|RCV000995787\|RCV002278250;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065; MONDO:MONDO:0007298	3	4687362	4687362	NC_000003.11:g.4687362C>T	ClinGen:CA10588363	C0950123 Inborn genetic diseases;
NM_001378452.1(ITPR1):c.951+35G>C	3708	ITPR1	Benign	-1	RCV001665961\|RCV001730931\|RCV001730932\|RCV001730930;	N	MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065	3	4693937	4693937	4693937	-
NM_001378452.1(ITPR1):c.1252-10T>A	3708	ITPR1	Uncertain significance	-1	RCV001837047;	N	MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065; MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4703756	4703756	4703756	-
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=)	3708	ITPR1	Benign/Likely benign	rs34252981	RCV000317356\|RCV000961429\|RCV001289067\|RCV002488748;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431	3	4703816	4703816	NC_000003.11:g.4703816G>A	ClinGen:CA2231158	CN227858 Spinocerebellar Ataxia, Dominant;
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)	3708	ITPR1	Likely pathogenic	-1	RCV001733872;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4704852	4704852	4704852	-
NM_001378452.1(ITPR1):c.1554+17G>A	3708	ITPR1	Benign/Likely benign	-1	RCV001567705\|RCV002476870;	N	MedGen:CN517202\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4704907	4704907	4704907	-
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)	3708	ITPR1	Benign	rs2306875	RCV000117299\|RCV000369453\|RCV000987082\|RCV000992190\|RCV001730527\|RCV001730526;	N	MedGen:CN169374\|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MONDO:MONDO:0008795,MedGen:C0431	3	4712413	4712413	NC_000003.11:g.4712413G>A	ClinGen:CA153210	CN169374 not specified;
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)	3708	ITPR1	Benign	rs2306877	RCV000117300\|RCV000323015\|RCV001521930\|RCV001730529\|RCV001730528\|RCV001730530;	N	MedGen:CN169374\|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065\|MONDO:MONDO:0007298,MedGen:C186173	3	4716811	4716811	NC_000003.11:g.4716811A>C	ClinGen:CA153213	CN169374 not specified;
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)	3708	ITPR1	Uncertain significance	rs1574832115	RCV001329639;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4722295	4722295	4722295	-
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile)	3708	ITPR1	Uncertain significance	rs747698039	RCV001329640\|RCV001859265;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MedGen:CN517202	3	4725114	4725114	4725114	-
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)	3708	ITPR1	Pathogenic	rs121912425	RCV000015924;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4725156	4725156	3:g.4725156C>T	ClinGen:CA341334,OMIM:147265.0002	C1847725 606658 Spinocerebellar ataxia 15;
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu)	3708	ITPR1	Uncertain significance	rs1467772045	RCV000610129\|RCV001770541;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MedGen:CN517202	3	4725159	4725159	3:g.4725159C>T	ClinGen:CA351650688	C1847725 606658 Spinocerebellar ataxia 15;
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)	3708	ITPR1	Benign/Likely benign	rs61751570	RCV000269615\|RCV000677365\|RCV000971867\|RCV002488749;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360,	3	4725445	4725445	NC_000003.11:g.4725445A>G	ClinGen:CA2231670	C1861732 117360 Spinocerebellar ataxia 29;
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr)	3708	ITPR1	Uncertain significance	rs372881053	RCV000517552\|RCV000764508\|RCV002525041\|RCV002527489;	N	MedGen:CN169374\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	4726852	4726852	3:g.4726852G>A	ClinGen:CA2231766	CN169374 not specified;
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=)	3708	ITPR1	Benign/Likely benign	rs201263269	RCV000917165\|RCV002495525;	N	MedGen:CN517202\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4726857	4726857	3:g.4726857G>A	-
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)	3708	ITPR1	Benign/Likely benign	rs34635052	RCV000375902\|RCV000955308\|RCV001288225\|RCV002488750;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431	3	4730181	4730181	NC_000003.11:g.4730181C>T	ClinGen:CA2231794	CN227858 Spinocerebellar Ataxia, Dominant;
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)	3708	ITPR1	Uncertain significance	rs768179678	RCV001262939\|RCV002051929;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MedGen:CN517202	3	4730242	4730242	3:g.4730242G>A	-
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)	3708	ITPR1	Conflicting interpretations of pathogenicity	rs182840163	RCV000262699\|RCV000298823\|RCV000881113\|RCV002311410;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4732893	4732893	3:g.4732893C>T	ClinGen:CA2231838	CN169374 not specified;
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)	3708	ITPR1	Benign/Likely benign	rs193212750	RCV000317907\|RCV000517096\|RCV000889548\|RCV002480205;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431	3	4732944	4732944	3:g.4732944T>C	ClinGen:CA2231851	CN169374 not specified;
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)	3708	ITPR1	Benign/Likely benign	rs142527379	RCV000296728\|RCV000900353\|RCV001660723\|RCV002488751;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431	3	4735398	4735398	NC_000003.11:g.4735398G>T	ClinGen:CA2231922	CN227858 Spinocerebellar Ataxia, Dominant;
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)	3708	ITPR1	Benign/Likely benign	rs3749383	RCV000387446\|RCV000516241\|RCV000884285\|RCV002488752;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431	3	4738837	4738837	NC_000003.11:g.4738837A>G	ClinGen:CA2231949	CN169374 not specified;
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)	3708	ITPR1	Likely pathogenic	rs1559718601	RCV002268270\|RCV002311994;	N	MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513	3	4738882	4738882	NC_000003.11:g.4738882G>A	-
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)	3708	ITPR1	Conflicting interpretations of pathogenicity	rs188558398	RCV000992197\|RCV001262674\|RCV001251784\|RCV001147931\|RCV002549783;	N	MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:00	3	4741510	4741510	3:g.4741510C>T	-
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His)	3708	ITPR1	Uncertain significance	rs749048534	RCV001329644;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4744518	4744518	4744518	-
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=)	3708	ITPR1	Benign	rs7613447	RCV000992199\|RCV001730747\|RCV001730745\|RCV001730746;	N	MedGen:CN517202\|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4767262	4767262	3:g.4767262T>C	-
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)	3708	ITPR1	Benign	-1	RCV001521931\|RCV001529663\|RCV001730814\|RCV001730815\|RCV001730813;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065	3	4817057	4817057	4817057	-
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)	3708	ITPR1	Uncertain significance	-1	RCV002283858;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4829735	4829735	4829735	-
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)	3708	ITPR1	Uncertain significance	-1	RCV002288991;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4836788	4836788	4836788	-
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)	3708	ITPR1	Benign/Likely benign	rs79720149	RCV000327876\|RCV000516912\|RCV000889463\|RCV002488753;	N	MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431	3	4854866	4854866	3:g.4854866T>C	ClinGen:CA2232869	CN169374 not specified;
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)	3708	ITPR1	Benign	rs711631	RCV000117304\|RCV000288234\|RCV000992209\|RCV001730535\|RCV001730536\|RCV001730534;	N	MedGen:CN169374\|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MONDO:MONDO:0008795,MedGen:C0431	3	4856180	4856180	NC_000003.11:g.4856180T>C	ClinGen:CA153225	CN169374 not specified;
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)	3708	ITPR1	Conflicting interpretations of pathogenicity	-1	RCV002274332\|RCV002280210;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MedGen:CN517202	3	4856181	4856181	4856181	-
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	3708	ITPR1	Conflicting interpretations of pathogenicity	rs1553757628	RCV000622722\|RCV000764511\|RCV000992210\|RCV001542743;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065; MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513\|MedGen:CN517202\|MONDO:MONDO:0007298	3	4856193	4856193	3:g.4856193G>A	ClinGen:CA351649065	C0950123 Inborn genetic diseases;
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)	3708	ITPR1	Benign	rs901854	RCV000117305\|RCV000379072\|RCV000992211\|RCV001730538\|RCV001730537\|RCV001730539;	N	MedGen:CN169374\|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99\|MedGen:CN517202\|MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065\|MONDO:MONDO:0007298,MedGen:C186173	3	4856234	4856234	NC_000003.11:g.4856234G>A	ClinGen:CA153228	CN169374 not specified;
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)	3708	ITPR1	Pathogenic	rs869312685	RCV000209834\|RCV001310467;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769\|MedGen:CN517202	3	4856819	4856819	3:g.4856819G>A	ClinGen:CA353411	C1847725 606658 Spinocerebellar ataxia 15;
Single allele	-1	ITPR1;ITPR1-DT;LOC112935931;LOC112935932;LOC121725	Pathogenic	-1	RCV000678034;	N	MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658, Orphanet:98769	3	4134224	4665869		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;

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