rs137854431

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

66531432

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs137854431
dbSNP (classic)	rs137854431
ClinGen	rs137854431
ebi	rs137854431
HLI	rs137854431
Exac	rs137854431
Gnomad	rs137854431
Varsome	rs137854431
LitVar	rs137854431
Map	rs137854431
PheGenI	rs137854431
Biobank	rs137854431
1000 genomes	rs137854431
hgdp	rs137854431
ensembl	rs137854431
geneview	rs137854431
scholar	rs137854431
google	rs137854431
pharmgkb	rs137854431
gwascentral	rs137854431
openSNP	rs137854431
23andMe	rs137854431
SNPshot	rs137854431
SNPdbe	rs137854431
MSV3d	rs137854431
GWAS Ctlg	rs137854431

Max Magnitude

5

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

OMIM	188250
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs137854431(T;T)
Alt	Rs137854431(T;T)
Reference	Rs137854431(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.66565335G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013547.27, RCV000199738.2,