rs137854430

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66513795

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs137854430
dbSNP (classic)	rs137854430
ClinGen	rs137854430
ebi	rs137854430
HLI	rs137854430
Exac	rs137854430
Gnomad	rs137854430
Varsome	rs137854430
LitVar	rs137854430
Map	rs137854430
PheGenI	rs137854430
Biobank	rs137854430
1000 genomes	rs137854430
hgdp	rs137854430
ensembl	rs137854430
geneview	rs137854430
scholar	rs137854430
google	rs137854430
pharmgkb	rs137854430
gwascentral	rs137854430
openSNP	rs137854430
23andMe	rs137854430
SNPshot	rs137854430
SNPdbe	rs137854430
MSV3d	rs137854430
GWAS Ctlg	rs137854430

Max Magnitude

5

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

OMIM	188250
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs137854430(A;A)
Alt	Rs137854430(A;A)
Reference	Rs137854430(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.66547698A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013546.24,