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rs113994095

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 7 POLG-related disorders, including ataxias
(A;G) 3 Carrier of a POLG mutation associated with ataxias
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome15
Position89327201
GeneMIR6766, POLG
is asnp
is mentioned by
dbSNPrs113994095
dbSNP (old)rs113994095
ClinGenrs113994095
ebirs113994095
HLIrs113994095
Exacrs113994095
Gnomadrs113994095
Varsomers113994095
Maprs113994095
PheGenIrs113994095
Biobankrs113994095
1000 genomesrs113994095
hgdprs113994095
ensemblrs113994095
gopubmedrs113994095
geneviewrs113994095
scholarrs113994095
googlers113994095
pharmgkbrs113994095
gwascentralrs113994095
openSNPrs113994095
23andMers113994095
23andMe allrs113994095
SNP Nexus

SNPshotrs113994095
SNPdbers113994095
MSV3drs113994095
GWAS Ctlgrs113994095
GMAF0.0004591
Max Magnitude7

rs113994095, also known as c.1399G>A, p.Ala467Thr and A467T, represents a mutation in the POLG gene on chromosome 15.

Inherited in a recessive manner, the uncommon rs113994095(A) 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).

OMIM174763
Desc
Variant0002
Relatedalso
ClinVar
Risk Rs113994095(A;A)
Alt Rs113994095(A;A)
Reference Rs113994095(G;G)
Significance Other
Disease Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy Myoclonic epilepsy myopathy sensory ataxia Progressive sclerosing poliodystrophy Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not provided POLG-Related Spectrum Disorders
Variation info
Gene MIR6766 POLG
CLNDBN Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Myoclonic epilepsy myopathy sensory ataxia Progressive sclerosing poliodystrophy Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not provided POLG-Related Spectrum Disorders
Reversed 1
HGVS NC_000015.9:g.89870432C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014440.20, RCV000014441.27, RCV000014442.28, RCV000014443.21, RCV000184011.1, RCV000188658.2, RCV000347876.1,