rs281865488

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a mitochondrial depletion syndrome mutation
(G;G)	5	TK-2 related mitochondrial depletion syndrome (myopathic)

Reference

GRCh38 38.1/141

Chromosome

16

Position

66541912

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865488
dbSNP (classic)	rs281865488
ClinGen	rs281865488
ebi	rs281865488
HLI	rs281865488
Exac	rs281865488
Gnomad	rs281865488
Varsome	rs281865488
LitVar	rs281865488
Map	rs281865488
PheGenI	rs281865488
Biobank	rs281865488
1000 genomes	rs281865488
hgdp	rs281865488
ensembl	rs281865488
geneview	rs281865488
scholar	rs281865488
google	rs281865488
pharmgkb	rs281865488
gwascentral	rs281865488
openSNP	rs281865488
23andMe	rs281865488
SNPshot	rs281865488
SNPdbe	rs281865488
MSV3d	rs281865488
GWAS Ctlg	rs281865488

Max Magnitude

5

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

ClinVar
Risk	Rs281865488(G;G) rs281865488(T;T)
Alt	Rs281865488(G;G) rs281865488(T;T)
Reference	Rs281865488(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.66575815G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032239.1,