rs281865500

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66549002

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865500
dbSNP (classic)	rs281865500
ClinGen	rs281865500
ebi	rs281865500
HLI	rs281865500
Exac	rs281865500
Gnomad	rs281865500
Varsome	rs281865500
LitVar	rs281865500
Map	rs281865500
PheGenI	rs281865500
Biobank	rs281865500
1000 genomes	rs281865500
hgdp	rs281865500
ensembl	rs281865500
geneview	rs281865500
scholar	rs281865500
google	rs281865500
pharmgkb	rs281865500
gwascentral	rs281865500
openSNP	rs281865500
23andMe	rs281865500
SNPshot	rs281865500
SNPdbe	rs281865500
MSV3d	rs281865500
GWAS Ctlg	rs281865500

Max Magnitude

5

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

ClinVar
Risk	Rs281865500(-;-)
Alt	Rs281865500(-;-)
Reference	Rs281865500(AGAA;AGAA)
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.66582905_66582908delTTCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032232.1,