Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 5.8 Episodic ataxia, type 1
(G;G) 0 common in clinvar


Make rs104894353(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912353
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894353
dbSNP (old)rs104894353
ClinGenrs104894353
ebirs104894353
HLIrs104894353
Exacrs104894353
Gnomadrs104894353
Varsomers104894353
LitVarrs104894353
Maprs104894353
PheGenIrs104894353
Biobankrs104894353
1000 genomesrs104894353
hgdprs104894353
ensemblrs104894353
gopubmedrs104894353
geneviewrs104894353
scholarrs104894353
googlers104894353
pharmgkbrs104894353
gwascentralrs104894353
openSNPrs104894353
23andMers104894353
23andMe allrs104894353
SNPshotrs104894353
SNPdbers104894353
MSV3drs104894353
GWAS Ctlgrs104894353
Max Magnitude5.8

aka c.975G>C (p.Glu325Asp or E325D)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant episodic ataxia, type 1

See also OMIM 176260.0006

OMIM176260
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894353(C;C)
Alt rs104894353(C;C)
Reference Rs104894353(G;G)
Significance Pathogenic
Disease Episodic ataxia type 1
Variation info
Gene KCNA1
CLNDBN Episodic ataxia type 1
Reversed 0
HGVS NC_000012.11:g.5021519G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014429.26,