rs281865502

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;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

66550053

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865502
dbSNP (classic)	rs281865502
ClinGen	rs281865502
ebi	rs281865502
HLI	rs281865502
Exac	rs281865502
Gnomad	rs281865502
Varsome	rs281865502
LitVar	rs281865502
Map	rs281865502
PheGenI	rs281865502
Biobank	rs281865502
1000 genomes	rs281865502
hgdp	rs281865502
ensembl	rs281865502
geneview	rs281865502
scholar	rs281865502
google	rs281865502
pharmgkb	rs281865502
gwascentral	rs281865502
openSNP	rs281865502
23andMe	rs281865502
SNPshot	rs281865502
SNPdbe	rs281865502
MSV3d	rs281865502
GWAS Ctlg	rs281865502

Max Magnitude

5

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

ClinVar
Risk	Rs281865502(T;T)
Alt	Rs281865502(T;T)
Reference	Rs281865502(-;-)
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.66583957dupA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032257.1,