rs281865505

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66541890

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865505
dbSNP (classic)	rs281865505
ClinGen	rs281865505
ebi	rs281865505
HLI	rs281865505
Exac	rs281865505
Gnomad	rs281865505
Varsome	rs281865505
LitVar	rs281865505
Map	rs281865505
PheGenI	rs281865505
Biobank	rs281865505
1000 genomes	rs281865505
hgdp	rs281865505
ensembl	rs281865505
geneview	rs281865505
scholar	rs281865505
google	rs281865505
pharmgkb	rs281865505
gwascentral	rs281865505
openSNP	rs281865505
23andMe	rs281865505
SNPshot	rs281865505
SNPdbe	rs281865505
MSV3d	rs281865505
GWAS Ctlg	rs281865505

Max Magnitude

5

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

ClinVar
Risk	Rs281865505(CG;CG)
Alt	Rs281865505(CG;CG)
Reference	Rs281865505(-;-)
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.66575794_66575795dupCG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032240.1,