rs137886900

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66517207

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs137886900
dbSNP (classic)	rs137886900
ClinGen	rs137886900
ebi	rs137886900
HLI	rs137886900
Exac	rs137886900
Gnomad	rs137886900
Varsome	rs137886900
LitVar	rs137886900
Map	rs137886900
PheGenI	rs137886900
Biobank	rs137886900
1000 genomes	rs137886900
hgdp	rs137886900
ensembl	rs137886900
geneview	rs137886900
scholar	rs137886900
google	rs137886900
pharmgkb	rs137886900
gwascentral	rs137886900
openSNP	rs137886900
23andMe	rs137886900
SNPshot	rs137886900
SNPdbe	rs137886900
MSV3d	rs137886900
GWAS Ctlg	rs137886900

Max Magnitude

5

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

ClinVar
Risk	Rs137886900(A;A) rs137886900(C;C) rs137886900(T;T)
Alt	Rs137886900(A;A) rs137886900(C;C) rs137886900(T;T)
Reference	Rs137886900(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 2 Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation	info
Gene	TK2
CLNDBN	Mitochondrial DNA depletion syndrome 2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Reversed	0
HGVS	NC_000016.9:g.66551110G>A; NC_000016.9:g.66551110G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032251.4, RCV000239457.1, RCV000032250.1,