rs281865492

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

66529054

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865492
dbSNP (classic)	rs281865492
ClinGen	rs281865492
ebi	rs281865492
HLI	rs281865492
Exac	rs281865492
Gnomad	rs281865492
Varsome	rs281865492
LitVar	rs281865492
Map	rs281865492
PheGenI	rs281865492
Biobank	rs281865492
1000 genomes	rs281865492
hgdp	rs281865492
ensembl	rs281865492
geneview	rs281865492
scholar	rs281865492
google	rs281865492
pharmgkb	rs281865492
gwascentral	rs281865492
openSNP	rs281865492
23andMe	rs281865492
SNPshot	rs281865492
SNPdbe	rs281865492
MSV3d	rs281865492
GWAS Ctlg	rs281865492

Max Magnitude

5

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

ClinVar
Risk	Rs281865492(A;A)
Alt	Rs281865492(A;A)
Reference	Rs281865492(G;G)
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.66562957C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032248.1,