rs863224235
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
| (A;C) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 66529020 |
| Gene | TK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224235 |
| dbSNP (classic) | rs863224235 |
| ClinGen | rs863224235 |
| ebi | rs863224235 |
| HLI | rs863224235 |
| Exac | rs863224235 |
| Gnomad | rs863224235 |
| Varsome | rs863224235 |
| LitVar | rs863224235 |
| Map | rs863224235 |
| PheGenI | rs863224235 |
| Biobank | rs863224235 |
| 1000 genomes | rs863224235 |
| hgdp | rs863224235 |
| ensembl | rs863224235 |
| geneview | rs863224235 |
| scholar | rs863224235 |
| rs863224235 | |
| pharmgkb | rs863224235 |
| gwascentral | rs863224235 |
| openSNP | rs863224235 |
| 23andMe | rs863224235 |
| SNPshot | rs863224235 |
| SNPdbe | rs863224235 |
| MSV3d | rs863224235 |
| GWAS Ctlg | rs863224235 |
| Max Magnitude | 5 |
Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition
| ClinVar | |
|---|---|
| Risk | Rs863224235(A;A) |
| Alt | Rs863224235(A;A) |
| Reference | Rs863224235(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | TK2 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.66562923G>T |
| CLNSRC | |
| CLNACC | RCV000199545.1, |
