TRNS1, tRNA, 4574

N. diseases: 186; N. variants: 7
Disease: MELAS Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474817
rs199474817
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C0162671
Disease:
MELAS Syndrome 		C 0.700 CausalMutation CLINVAR A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. 7669057 1995