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

rs137852619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5.8 Episodic ataxia, type 6
Make rs137852619(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position36679635
GeneSLC1A3
is asnp
is mentioned by
dbSNPrs137852619
dbSNP (classic)rs137852619
ClinGenrs137852619
ebirs137852619
HLIrs137852619
Exacrs137852619
Gnomadrs137852619
Varsomers137852619
LitVarrs137852619
Maprs137852619
PheGenIrs137852619
Biobankrs137852619
1000 genomesrs137852619
hgdprs137852619
ensemblrs137852619
geneviewrs137852619
scholarrs137852619
googlers137852619
pharmgkbrs137852619
gwascentralrs137852619
openSNPrs137852619
23andMers137852619
SNPshotrs137852619
SNPdbers137852619
MSV3drs137852619
GWAS Ctlgrs137852619
Max Magnitude5.8

aka c.869C>G (p.Pro290Arg or P290R)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant episodic ataxia, type 6

See also OMIM 600111.0001

OMIM600111
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852619(G;G)
Alt rs137852619(G;G)
Reference Rs137852619(C;C)
Significance Pathogenic
Disease Episodic ataxia
Variation info
Gene SLC1A3
CLNDBN Episodic ataxia, type 6
Reversed 0
HGVS NC_000005.9:g.36679737C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010048.6,