rs281865497

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

66513786

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865497
dbSNP (classic)	rs281865497
ClinGen	rs281865497
ebi	rs281865497
HLI	rs281865497
Exac	rs281865497
Gnomad	rs281865497
Varsome	rs281865497
LitVar	rs281865497
Map	rs281865497
PheGenI	rs281865497
Biobank	rs281865497
1000 genomes	rs281865497
hgdp	rs281865497
ensembl	rs281865497
geneview	rs281865497
scholar	rs281865497
google	rs281865497
pharmgkb	rs281865497
gwascentral	rs281865497
openSNP	rs281865497
23andMe	rs281865497
SNPshot	rs281865497
SNPdbe	rs281865497
MSV3d	rs281865497
GWAS Ctlg	rs281865497

Max Magnitude

5

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

ClinVar
Risk	Rs281865497(C;C)
Alt	Rs281865497(C;C)
Reference	Rs281865497(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.66547689A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032255.1,