rs113994097
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 7 | Ataxias, including spinocerebellar ataxia |
| (C;G) | 3 | Carrier of a POLG mutation associated with ataxias |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 89323426 |
| Gene | POLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113994097 |
| dbSNP (classic) | rs113994097 |
| ClinGen | rs113994097 |
| ebi | rs113994097 |
| HLI | rs113994097 |
| Exac | rs113994097 |
| Gnomad | rs113994097 |
| Varsome | rs113994097 |
| LitVar | rs113994097 |
| Map | rs113994097 |
| PheGenI | rs113994097 |
| Biobank | rs113994097 |
| 1000 genomes | rs113994097 |
| hgdp | rs113994097 |
| ensembl | rs113994097 |
| geneview | rs113994097 |
| scholar | rs113994097 |
| rs113994097 | |
| pharmgkb | rs113994097 |
| gwascentral | rs113994097 |
| openSNP | rs113994097 |
| 23andMe | rs113994097 |
| SNPshot | rs113994097 |
| SNPdbe | rs113994097 |
| MSV3d | rs113994097 |
| GWAS Ctlg | rs113994097 |
| Max Magnitude | 7 |
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
]
23andMe name: i5006731
| 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 POLG-Related Spectrum Disorders |
| 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 POLG-Related Spectrum Disorders |
| Reversed | 1 |
| HGVS | NC_000015.9:g.89866657C>G |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014459.25, RCV000014460.25, RCV000014461.19, RCV000080023.6, RCV000144870.2, RCV000313739.1, |
