rs281865493

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

66529055

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865493
dbSNP (classic)	rs281865493
ClinGen	rs281865493
ebi	rs281865493
HLI	rs281865493
Exac	rs281865493
Gnomad	rs281865493
Varsome	rs281865493
LitVar	rs281865493
Map	rs281865493
PheGenI	rs281865493
Biobank	rs281865493
1000 genomes	rs281865493
hgdp	rs281865493
ensembl	rs281865493
geneview	rs281865493
scholar	rs281865493
google	rs281865493
pharmgkb	rs281865493
gwascentral	rs281865493
openSNP	rs281865493
23andMe	rs281865493
SNPshot	rs281865493
SNPdbe	rs281865493
MSV3d	rs281865493
GWAS Ctlg	rs281865493

Max Magnitude

5

Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition

ClinVar
Risk	Rs281865493(T;T)
Alt	Rs281865493(T;T)
Reference	Rs281865493(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.66562958G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032247.1,