rs281865501

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66517148

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865501
dbSNP (classic)	rs281865501
ClinGen	rs281865501
ebi	rs281865501
HLI	rs281865501
Exac	rs281865501
Gnomad	rs281865501
Varsome	rs281865501
LitVar	rs281865501
Map	rs281865501
PheGenI	rs281865501
Biobank	rs281865501
1000 genomes	rs281865501
hgdp	rs281865501
ensembl	rs281865501
geneview	rs281865501
scholar	rs281865501
google	rs281865501
pharmgkb	rs281865501
gwascentral	rs281865501
openSNP	rs281865501
23andMe	rs281865501
SNPshot	rs281865501
SNPdbe	rs281865501
MSV3d	rs281865501
GWAS Ctlg	rs281865501

Max Magnitude

5

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

ClinVar
Risk	Rs281865501(-;-)
Alt	Rs281865501(-;-)
Reference	Rs281865501(AAG;AAG)
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.66551051_66551053delCTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032254.1,