rs281865489

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

66536981

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865489
dbSNP (classic)	rs281865489
ClinGen	rs281865489
ebi	rs281865489
HLI	rs281865489
Exac	rs281865489
Gnomad	rs281865489
Varsome	rs281865489
LitVar	rs281865489
Map	rs281865489
PheGenI	rs281865489
Biobank	rs281865489
1000 genomes	rs281865489
hgdp	rs281865489
ensembl	rs281865489
geneview	rs281865489
scholar	rs281865489
google	rs281865489
pharmgkb	rs281865489
gwascentral	rs281865489
openSNP	rs281865489
23andMe	rs281865489
SNPshot	rs281865489
SNPdbe	rs281865489
MSV3d	rs281865489
GWAS Ctlg	rs281865489

Max Magnitude

5

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

ClinVar
Risk	Rs281865489(T;T)
Alt	Rs281865489(T;T)
Reference	Rs281865489(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.66570884G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032241.27,