rs281865499

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66548976

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865499
dbSNP (classic)	rs281865499
ClinGen	rs281865499
ebi	rs281865499
HLI	rs281865499
Exac	rs281865499
Gnomad	rs281865499
Varsome	rs281865499
LitVar	rs281865499
Map	rs281865499
PheGenI	rs281865499
Biobank	rs281865499
1000 genomes	rs281865499
hgdp	rs281865499
ensembl	rs281865499
geneview	rs281865499
scholar	rs281865499
google	rs281865499
pharmgkb	rs281865499
gwascentral	rs281865499
openSNP	rs281865499
23andMe	rs281865499
SNPshot	rs281865499
SNPdbe	rs281865499
MSV3d	rs281865499
GWAS Ctlg	rs281865499

Max Magnitude

5

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

ClinVar
Risk	rs281865499(A;A) Rs281865499(C;C)
Alt	rs281865499(A;A) Rs281865499(C;C)
Reference	Rs281865499(T;T)
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.66582879A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032236.1,