rs281865487
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
(T;T) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 66541919 |
Gene | TK2 |
is a | snp |
is | mentioned by |
dbSNP | rs281865487 |
dbSNP (classic) | rs281865487 |
ClinGen | rs281865487 |
ebi | rs281865487 |
HLI | rs281865487 |
Exac | rs281865487 |
Gnomad | rs281865487 |
Varsome | rs281865487 |
LitVar | rs281865487 |
Map | rs281865487 |
PheGenI | rs281865487 |
Biobank | rs281865487 |
1000 genomes | rs281865487 |
hgdp | rs281865487 |
ensembl | rs281865487 |
geneview | rs281865487 |
scholar | rs281865487 |
rs281865487 | |
pharmgkb | rs281865487 |
gwascentral | rs281865487 |
openSNP | rs281865487 |
23andMe | rs281865487 |
SNPshot | rs281865487 |
SNPdbe | rs281865487 |
MSV3d | rs281865487 |
GWAS Ctlg | rs281865487 |
Max Magnitude | 5 |
Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition
ClinVar | |
---|---|
Risk | Rs281865487(T;T) |
Alt | Rs281865487(T;T) |
Reference | Rs281865487(C;C) |
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.66575822G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000032238.1, |