OXCT1, 3-oxoacid CoA-transferase 1, 5019

N. diseases: 33; N. variants: 13
Disease: Succinyl-CoA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561128268
rs1561128268
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
CUI: C0342792
Disease:
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		G 0.700 GeneticVariation CLINVAR Rare cause of high anion gap metabolic acidosis in an infant: Succinyl-CoA:3-ketoacid transferase deficiency. 31216074 2019