Gene: GATB ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376766195
rs376766195
GATB
C 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018
dbSNP: rs565910322
rs565910322
GATB
A 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018