rs138439950

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

66541937

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs138439950
dbSNP (classic)	rs138439950
ClinGen	rs138439950
ebi	rs138439950
HLI	rs138439950
Exac	rs138439950
Gnomad	rs138439950
Varsome	rs138439950
LitVar	rs138439950
Map	rs138439950
PheGenI	rs138439950
Biobank	rs138439950
1000 genomes	rs138439950
hgdp	rs138439950
ensembl	rs138439950
geneview	rs138439950
scholar	rs138439950
google	rs138439950
pharmgkb	rs138439950
gwascentral	rs138439950
openSNP	rs138439950
23andMe	rs138439950
SNPshot	rs138439950
SNPdbe	rs138439950
MSV3d	rs138439950
GWAS Ctlg	rs138439950

Max Magnitude

5

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

ClinVar
Risk	Rs138439950(C;C)
Alt	Rs138439950(C;C)
Reference	Rs138439950(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.66575840T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032237.1,