rs113994098
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 89321792 |
| Gene | POLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113994098 |
| dbSNP (classic) | rs113994098 |
| ClinGen | rs113994098 |
| ebi | rs113994098 |
| HLI | rs113994098 |
| Exac | rs113994098 |
| Gnomad | rs113994098 |
| Varsome | rs113994098 |
| LitVar | rs113994098 |
| Map | rs113994098 |
| PheGenI | rs113994098 |
| Biobank | rs113994098 |
| 1000 genomes | rs113994098 |
| hgdp | rs113994098 |
| ensembl | rs113994098 |
| geneview | rs113994098 |
| scholar | rs113994098 |
| rs113994098 | |
| pharmgkb | rs113994098 |
| gwascentral | rs113994098 |
| openSNP | rs113994098 |
| 23andMe | rs113994098 |
| SNPshot | rs113994098 |
| SNPdbe | rs113994098 |
| MSV3d | rs113994098 |
| GWAS Ctlg | rs113994098 |
| Max Magnitude | 7 |
rs113994098, also known as c.2542G>A, p.Gly848Ser and G848S, represents a mutation in the POLG gene on chromosome 15.
Inherited in a recessive manner, the uncommon rs113994098(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).
23andMe name: i5006724
| ClinVar | |
|---|---|
| Risk | Rs113994098(A;A) |
| Alt | Rs113994098(A;A) |
| Reference | Rs113994098(G;G) |
| Significance | Pathogenic |
| Disease | Cerebellar ataxia infantile with progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4B not provided POLG-Related Spectrum Disorders |
| Variation | info |
| Gene | POLG |
| CLNDBN | Cerebellar ataxia infantile with progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4B, MNGIE type not provided POLG-Related Spectrum Disorders |
| Reversed | 1 |
| HGVS | NC_000015.9:g.89865023C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014449.18, RCV000014450.25, RCV000014451.21, RCV000014452.25, RCV000188580.3, RCV000363602.1, |
