rs281865496

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66517179

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865496
dbSNP (classic)	rs281865496
ClinGen	rs281865496
ebi	rs281865496
HLI	rs281865496
Exac	rs281865496
Gnomad	rs281865496
Varsome	rs281865496
LitVar	rs281865496
Map	rs281865496
PheGenI	rs281865496
Biobank	rs281865496
1000 genomes	rs281865496
hgdp	rs281865496
ensembl	rs281865496
geneview	rs281865496
scholar	rs281865496
google	rs281865496
pharmgkb	rs281865496
gwascentral	rs281865496
openSNP	rs281865496
23andMe	rs281865496
SNPshot	rs281865496
SNPdbe	rs281865496
MSV3d	rs281865496
GWAS Ctlg	rs281865496

Max Magnitude

5

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

ClinVar
Risk	Rs281865496(A;A)
Alt	Rs281865496(A;A)
Reference	Rs281865496(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 2 not provided
Variation	info
Gene	TK2
CLNDBN	Mitochondrial DNA depletion syndrome 2 not provided
Reversed	1
HGVS	NC_000016.9:g.66551082C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032253.1, RCV000494549.1,