rs281865487

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

66541919

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865487
dbSNP (classic)	rs281865487
ClinGen	rs281865487
ebi	rs281865487
HLI	rs281865487
Exac	rs281865487
Gnomad	rs281865487
Varsome	rs281865487
LitVar	rs281865487
Map	rs281865487
PheGenI	rs281865487
Biobank	rs281865487
1000 genomes	rs281865487
hgdp	rs281865487
ensembl	rs281865487
geneview	rs281865487
scholar	rs281865487
google	rs281865487
pharmgkb	rs281865487
gwascentral	rs281865487
openSNP	rs281865487
23andMe	rs281865487
SNPshot	rs281865487
SNPdbe	rs281865487
MSV3d	rs281865487
GWAS Ctlg	rs281865487

Max Magnitude

5

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

ClinVar
Risk	Rs281865487(T;T)
Alt	Rs281865487(T;T)
Reference	Rs281865487(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.66575822G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032238.1,