ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 176; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074147
rs120074147
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		C 0.810 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs148639841
rs148639841
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		G 0.810 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074147
rs120074147
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation UNIPROT Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. 9744475 1998
dbSNP: rs120074147
rs120074147
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation BEFREE Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. 9744475 1998
dbSNP: rs148639841
rs148639841
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation UNIPROT Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. 9744475 1998
dbSNP: rs120074147
rs120074147
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation UNIPROT Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. 7728148 1995
dbSNP: rs148639841
rs148639841
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		G 0.810 GeneticVariation CLINVAR Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. 7728148 1995
dbSNP: rs148639841
rs148639841
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation BEFREE A common mutation in T2 deficiency has not been detected but 4 mutations (N158D, Q272X, 828 + 1, 1163 + 2) were identified in two independent families. 7749408 1995
dbSNP: rs148639841
rs148639841
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation UNIPROT Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. 7728148 1995
dbSNP: rs120074147
rs120074147
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation UNIPROT Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. 1346617 1992
dbSNP: rs148639841
rs148639841
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation UNIPROT Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. 1346617 1992
dbSNP: rs120074147
rs120074147
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation UNIPROT Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. 1715688 1991
dbSNP: rs148639841
rs148639841
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.810 GeneticVariation UNIPROT Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. 1715688 1991
dbSNP: rs120074147
rs120074147
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		C 0.810 CausalMutation CLINVAR
dbSNP: rs120074140
rs120074140
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		A 0.800 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074141
rs120074141
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		A 0.800 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074143
rs120074143
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		T 0.800 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074145
rs120074145
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		G 0.800 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074146
rs120074146
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		C 0.800 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs762991875
rs762991875
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		C 0.800 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs886041122
rs886041122
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		T 0.800 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs762991875
rs762991875
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		C 0.800 CausalMutation CLINVAR "Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with ""mild"" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA." 15128923 2004
dbSNP: rs762991875
rs762991875
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		C 0.800 CausalMutation CLINVAR Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure. 11914035 2002
dbSNP: rs120074140
rs120074140
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation UNIPROT Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. 9744475 1998
dbSNP: rs120074141
rs120074141
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation UNIPROT Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. 9744475 1998