rs281865495

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66517192

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865495
dbSNP (classic)	rs281865495
ClinGen	rs281865495
ebi	rs281865495
HLI	rs281865495
Exac	rs281865495
Gnomad	rs281865495
Varsome	rs281865495
LitVar	rs281865495
Map	rs281865495
PheGenI	rs281865495
Biobank	rs281865495
1000 genomes	rs281865495
hgdp	rs281865495
ensembl	rs281865495
geneview	rs281865495
scholar	rs281865495
google	rs281865495
pharmgkb	rs281865495
gwascentral	rs281865495
openSNP	rs281865495
23andMe	rs281865495
SNPshot	rs281865495
SNPdbe	rs281865495
MSV3d	rs281865495
GWAS Ctlg	rs281865495

Max Magnitude

5

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

ClinVar
Risk	Rs281865495(G;G)
Alt	Rs281865495(G;G)
Reference	Rs281865495(A;A)
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	1
HGVS	NC_000016.9:g.66551095T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032252.4, RCV000239458.1,