rs137854432

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66541951

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs137854432
dbSNP (classic)	rs137854432
ClinGen	rs137854432
ebi	rs137854432
HLI	rs137854432
Exac	rs137854432
Gnomad	rs137854432
Varsome	rs137854432
LitVar	rs137854432
Map	rs137854432
PheGenI	rs137854432
Biobank	rs137854432
1000 genomes	rs137854432
hgdp	rs137854432
ensembl	rs137854432
geneview	rs137854432
scholar	rs137854432
google	rs137854432
pharmgkb	rs137854432
gwascentral	rs137854432
openSNP	rs137854432
23andMe	rs137854432
SNPshot	rs137854432
SNPdbe	rs137854432
MSV3d	rs137854432
GWAS Ctlg	rs137854432

Max Magnitude

5

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

OMIM	188250
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs137854432(G;G)
Alt	Rs137854432(G;G)
Reference	Rs137854432(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.66575854G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013548.19,