rs281865506

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66531418

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865506
dbSNP (classic)	rs281865506
ClinGen	rs281865506
ebi	rs281865506
HLI	rs281865506
Exac	rs281865506
Gnomad	rs281865506
Varsome	rs281865506
LitVar	rs281865506
Map	rs281865506
PheGenI	rs281865506
Biobank	rs281865506
1000 genomes	rs281865506
hgdp	rs281865506
ensembl	rs281865506
geneview	rs281865506
scholar	rs281865506
google	rs281865506
pharmgkb	rs281865506
gwascentral	rs281865506
openSNP	rs281865506
23andMe	rs281865506
SNPshot	rs281865506
SNPdbe	rs281865506
MSV3d	rs281865506
GWAS Ctlg	rs281865506

Max Magnitude

5

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

ClinVar
Risk	Rs281865506(AT;AT)
Alt	Rs281865506(AT;AT)
Reference	Rs281865506(-;-)
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.66565322_66565323dupAT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032244.1,