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rs281865503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 3 Carrier of a mitochondrial depletion syndrome mutation
(G;G) 5 TK-2 related mitochondrial depletion syndrome (myopathic)
ReferenceGRCh38 38.1/141
Chromosome16
Position66548991
GeneTK2
is asnp
is mentioned by
dbSNPrs281865503
dbSNP (classic)rs281865503
ClinGenrs281865503
ebirs281865503
HLIrs281865503
Exacrs281865503
Gnomadrs281865503
Varsomers281865503
LitVarrs281865503
Maprs281865503
PheGenIrs281865503
Biobankrs281865503
1000 genomesrs281865503
hgdprs281865503
ensemblrs281865503
geneviewrs281865503
scholarrs281865503
googlers281865503
pharmgkbrs281865503
gwascentralrs281865503
openSNPrs281865503
23andMers281865503
SNPshotrs281865503
SNPdbers281865503
MSV3drs281865503
GWAS Ctlgrs281865503
Max Magnitude5

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

ClinVar
Risk Rs281865503(G;G)
Alt Rs281865503(G;G)
Reference Rs281865503(-;-)
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.66582895dupC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032234.1,