rs886039669

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

66531382

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs886039669
dbSNP (classic)	rs886039669
ClinGen	rs886039669
ebi	rs886039669
HLI	rs886039669
Exac	rs886039669
Gnomad	rs886039669
Varsome	rs886039669
LitVar	rs886039669
Map	rs886039669
PheGenI	rs886039669
Biobank	rs886039669
1000 genomes	rs886039669
hgdp	rs886039669
ensembl	rs886039669
geneview	rs886039669
scholar	rs886039669
google	rs886039669
pharmgkb	rs886039669
gwascentral	rs886039669
openSNP	rs886039669
23andMe	rs886039669
SNPshot	rs886039669
SNPdbe	rs886039669
MSV3d	rs886039669
GWAS Ctlg	rs886039669

Max Magnitude

5

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

ClinVar
Risk	Rs886039669(CT;CT)
Alt	Rs886039669(CT;CT)
Reference	Rs886039669(TC;TC)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	TK2
CLNDBN	not provided
Reversed	1
HGVS	NC_000016.9:g.66565285_66565286delGAinsAG
CLNSRC
CLNACC	RCV000255167.1,