rs142291440

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66536971

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs142291440
dbSNP (classic)	rs142291440
ClinGen	rs142291440
ebi	rs142291440
HLI	rs142291440
Exac	rs142291440
Gnomad	rs142291440
Varsome	rs142291440
LitVar	rs142291440
Map	rs142291440
PheGenI	rs142291440
Biobank	rs142291440
1000 genomes	rs142291440
hgdp	rs142291440
ensembl	rs142291440
geneview	rs142291440
scholar	rs142291440
google	rs142291440
pharmgkb	rs142291440
gwascentral	rs142291440
openSNP	rs142291440
23andMe	rs142291440
SNPshot	rs142291440
SNPdbe	rs142291440
MSV3d	rs142291440
GWAS Ctlg	rs142291440

Max Magnitude

5

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

ClinVar
Risk	Rs142291440(C;C)
Alt	Rs142291440(C;C)
Reference	Rs142291440(T;T)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 2
Variation	info
Gene	TK2
CLNDBN	Mitochondrial DNA depletion syndrome 2
Reversed	0
HGVS	NC_000016.9:g.66570874T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032242.1,