rs281865507

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66531394

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865507
dbSNP (classic)	rs281865507
ClinGen	rs281865507
ebi	rs281865507
HLI	rs281865507
Exac	rs281865507
Gnomad	rs281865507
Varsome	rs281865507
LitVar	rs281865507
Map	rs281865507
PheGenI	rs281865507
Biobank	rs281865507
1000 genomes	rs281865507
hgdp	rs281865507
ensembl	rs281865507
geneview	rs281865507
scholar	rs281865507
google	rs281865507
pharmgkb	rs281865507
gwascentral	rs281865507
openSNP	rs281865507
23andMe	rs281865507
SNPshot	rs281865507
SNPdbe	rs281865507
MSV3d	rs281865507
GWAS Ctlg	rs281865507

Max Magnitude

5

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

ClinVar
Risk	Rs281865507(AA;AA)
Alt	Rs281865507(AA;AA)
Reference	Rs281865507(GC;GC)
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.66565297_66565298delGCinsTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032245.1,