rs281865491

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

66531382

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865491
dbSNP (classic)	rs281865491
ClinGen	rs281865491
ebi	rs281865491
HLI	rs281865491
Exac	rs281865491
Gnomad	rs281865491
Varsome	rs281865491
LitVar	rs281865491
Map	rs281865491
PheGenI	rs281865491
Biobank	rs281865491
1000 genomes	rs281865491
hgdp	rs281865491
ensembl	rs281865491
geneview	rs281865491
scholar	rs281865491
google	rs281865491
pharmgkb	rs281865491
gwascentral	rs281865491
openSNP	rs281865491
23andMe	rs281865491
SNPshot	rs281865491
SNPdbe	rs281865491
MSV3d	rs281865491
GWAS Ctlg	rs281865491

Max Magnitude

5

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

ClinVar
Risk	Rs281865491(T;T)
Alt	Rs281865491(T;T)
Reference	Rs281865491(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.66565285G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032246.1,