rs137854429

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66531394

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs137854429
dbSNP (classic)	rs137854429
ClinGen	rs137854429
ebi	rs137854429
HLI	rs137854429
Exac	rs137854429
Gnomad	rs137854429
Varsome	rs137854429
LitVar	rs137854429
Map	rs137854429
PheGenI	rs137854429
Biobank	rs137854429
1000 genomes	rs137854429
hgdp	rs137854429
ensembl	rs137854429
geneview	rs137854429
scholar	rs137854429
google	rs137854429
pharmgkb	rs137854429
gwascentral	rs137854429
openSNP	rs137854429
23andMe	rs137854429
SNPshot	rs137854429
SNPdbe	rs137854429
MSV3d	rs137854429
GWAS Ctlg	rs137854429

GMAF

0.0004591

Max Magnitude

5

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

OMIM	188250
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs137854429(A;A)
Alt	Rs137854429(A;A)
Reference	Rs137854429(C;C)
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.66565297G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013545.24,