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rs113994097

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 7 Ataxias, including spinocerebellar ataxia
(C;G) 3 Carrier of a mutation associated with ataxias
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome15
Position89323426
GenePOLG
is asnp
is mentioned by
dbSNPrs113994097
ebirs113994097
HLIrs113994097
Exacrs113994097
Varsomers113994097
Maprs113994097
PheGenIrs113994097
hapmaprs113994097
1000 genomesrs113994097
hgdprs113994097
ensemblrs113994097
gopubmedrs113994097
geneviewrs113994097
scholarrs113994097
googlers113994097
pharmgkbrs113994097
gwascentralrs113994097
openSNPrs113994097
23andMers113994097
23andMe allrs113994097
SNP Nexus

SNPshotrs113994097
SNPdbers113994097
MSV3drs113994097
GWAS Ctlgrs113994097
Max Magnitude7

rs113994097, also known as c.2243G>C, p.Trp748Ser and W748S, represents a mutation in the POLG gene on chromosome 15.

Inherited in a recessive manner, the uncommon rs113994097(C) allele is associated with a variety of syndromes involving ataxias, including mitochondrial DNA depletion syndrome type 4A (Alpers syndrome) and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO).

Haplotype analysis has demonstrated that the rs113994097(C) in patients from Finland, Norway, the United Kingdom, and Belgium appears to originate from a common ancient founder.[PMID 16080118]

OMIM174763
Desc
Variant0013
Relatedalso
ClinVar
Risk rs113994097(C;C)
Alt rs113994097(C;C)
Reference rs113994097(G;G)
Significance Pathogenic
Disease Sensory ataxic neuropathy Myoclonic epilepsy myopathy sensory ataxia Progressive sclerosing poliodystrophy not provided Charcot-Marie-Tooth disease
Variation info
Gene POLG
CLNDBN Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Myoclonic epilepsy myopathy sensory ataxia Progressive sclerosing poliodystrophy not provided Charcot-Marie-Tooth disease
Reversed 1
HGVS NC_000015.9:g.89866657C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000014459.25, RCV000014460.24, RCV000014461.17, RCV000080023.5, RCV000144870.2,