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rs267606858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Likely miscall in Ancestry v2 datasets; otherwise, carrier of a glycogen storage disease mutation
(T;T) 5 Likely miscall in Ancestry data; otherwise, Glycogen storage disease XV
ReferenceGRCh38 38.1/141
Chromosome3
Position148996406
GeneGYG1
is asnp
is mentioned by
dbSNPrs267606858
ebirs267606858
HLIrs267606858
Exacrs267606858
Varsomers267606858
Maprs267606858
PheGenIrs267606858
hapmaprs267606858
1000 genomesrs267606858
hgdprs267606858
ensemblrs267606858
gopubmedrs267606858
geneviewrs267606858
scholarrs267606858
googlers267606858
pharmgkbrs267606858
gwascentralrs267606858
openSNPrs267606858
23andMers267606858
23andMe allrs267606858
SNP Nexus

SNPshotrs267606858
SNPdbers267606858
MSV3drs267606858
GWAS Ctlgrs267606858
Max Magnitude5

rs267606858, also known as c.248C>T, p.Thr83Met and T83M, represents a very rare mutation in the GYG1 gene on chromosome 3.

The rs267606858(T) mutation is considered pathogenic for glycogen storage disease XV, a recessively inherited disease, based on data in ClinVar and OMIM.

ClinVar
Risk rs267606858(G;G) Rs267606858(T;T)
Alt rs267606858(G;G) Rs267606858(T;T)
Reference Rs267606858(C;C)
Significance Pathogenic
Disease Glycogen storage disease XV
Variation info
Gene GYG1
CLNDBN Glycogen storage disease XV
Reversed 0
HGVS NC_000003.11:g.148714193C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006318.5,