rs281865504

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66548983

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865504
dbSNP (classic)	rs281865504
ClinGen	rs281865504
ebi	rs281865504
HLI	rs281865504
Exac	rs281865504
Gnomad	rs281865504
Varsome	rs281865504
LitVar	rs281865504
Map	rs281865504
PheGenI	rs281865504
Biobank	rs281865504
1000 genomes	rs281865504
hgdp	rs281865504
ensembl	rs281865504
geneview	rs281865504
scholar	rs281865504
google	rs281865504
pharmgkb	rs281865504
gwascentral	rs281865504
openSNP	rs281865504
23andMe	rs281865504
SNPshot	rs281865504
SNPdbe	rs281865504
MSV3d	rs281865504
GWAS Ctlg	rs281865504

Max Magnitude

5

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

ClinVar
Risk	Rs281865504(A;A)
Alt	Rs281865504(A;A)
Reference	Rs281865504(-;-)
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.66582887dupT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032235.1,