rs281865494

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66529027

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865494
dbSNP (classic)	rs281865494
ClinGen	rs281865494
ebi	rs281865494
HLI	rs281865494
Exac	rs281865494
Gnomad	rs281865494
Varsome	rs281865494
LitVar	rs281865494
Map	rs281865494
PheGenI	rs281865494
Biobank	rs281865494
1000 genomes	rs281865494
hgdp	rs281865494
ensembl	rs281865494
geneview	rs281865494
scholar	rs281865494
google	rs281865494
pharmgkb	rs281865494
gwascentral	rs281865494
openSNP	rs281865494
23andMe	rs281865494
SNPshot	rs281865494
SNPdbe	rs281865494
MSV3d	rs281865494
GWAS Ctlg	rs281865494

Max Magnitude

5

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

ClinVar
Risk	Rs281865494(T;T)
Alt	Rs281865494(T;T)
Reference	Rs281865494(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 2 not provided
Variation	info
Gene	TK2
CLNDBN	Mitochondrial DNA depletion syndrome 2 not provided
Reversed	1
HGVS	NC_000016.9:g.66562930G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032249.1, RCV000197645.2,