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: rs368841359
rs368841359
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
CUI: C0342792
Disease:
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.700 GeneticVariation UNIPROT Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. 21296660 2011
dbSNP: rs368841359
rs368841359
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
CUI: C0342792
Disease:
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.700 GeneticVariation UNIPROT Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. 10964512 2000
dbSNP: rs368841359
rs368841359
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
CUI: C0342792
Disease:
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.700 GeneticVariation UNIPROT Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. 9671268 1998