rs137854430
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
| (A;T) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 66513795 |
| Gene | TK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854430 |
| dbSNP (classic) | rs137854430 |
| ClinGen | rs137854430 |
| ebi | rs137854430 |
| HLI | rs137854430 |
| Exac | rs137854430 |
| Gnomad | rs137854430 |
| Varsome | rs137854430 |
| LitVar | rs137854430 |
| Map | rs137854430 |
| PheGenI | rs137854430 |
| Biobank | rs137854430 |
| 1000 genomes | rs137854430 |
| hgdp | rs137854430 |
| ensembl | rs137854430 |
| geneview | rs137854430 |
| scholar | rs137854430 |
| rs137854430 | |
| pharmgkb | rs137854430 |
| gwascentral | rs137854430 |
| openSNP | rs137854430 |
| 23andMe | rs137854430 |
| SNPshot | rs137854430 |
| SNPdbe | rs137854430 |
| MSV3d | rs137854430 |
| GWAS Ctlg | rs137854430 |
| Max Magnitude | 5 |
Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition
| ClinVar | |
|---|---|
| Risk | Rs137854430(A;A) |
| Alt | Rs137854430(A;A) |
| Reference | Rs137854430(T;T) |
| Significance | Pathogenic |
| Disease | Mitochondrial DNA depletion syndrome 2 |
| Variation | info |
| Gene | TK2 |
| CLNDBN | Mitochondrial DNA depletion syndrome 2 |
| Reversed | 1 |
| HGVS | NC_000016.9:g.66547698A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013546.24, |
