Database of Pathogenic Variants
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Gene Detail
Gene Symbol
ACAT1
Gene:38
HGNC:93
Gene Name
acetyl-CoA acetyltransferase 1
Chromosome
11
Cytogenetic Band
q22.3
RefSeq Accession
NM_000019
Associated Diseases
3-ketothiolase deficiency
Associated Variants
NM_000019.3:c.2T>C
NM_000019.3:c.149delC
NM_000019.4:c.149delC
NM_000019.3:c.278A>G
NM_000019.4:c.278A>G
NM_000019.3:c.431A>C
NM_000019.3:c.556G>T
NM_000019.3:c.578T>C
NM_000019.3:c.578T>G
NM_000019.3:c.826+5G>T
NM_000019.3:c.935T>C
NM_000019.4:c.935T>C
NM_000019.3:c.951C>T
NM_000019.3:c.997G>C
NM_000019.4:c.997G>C
NM_000019.3:c.1168T>C
NM_000019.4:c.2T>A
NM_000019.4:c.13G>C
NM_000019.3:c.52dupC
NM_000019.4:c.83_84delAT
NM_000019.3:c.121-13T>A
NM_000019.3:c.133_238del
NM_000019.3:c.163_167delinsAA
NM_000019.4:c.218A>C
NM_000019.4:c.254_256delAAG
NM_000019.3:c.380C>T
NM_000019.3:c.395C>G
NM_000019.4:c.435+1G>A
NM_000019.3:c.455G>C
NM_000019.4:c.455G>C
NM_000019.4:c.472A>G
NM_000019.4:c.473A>G
NM_000019.4:c.547G>A
NM_000019.3:c.622C>T
NM_000019.4:c.623G>A
NM_000019.4:c.655T>C
NM_000019.4:c.731-46_752del68
NM_000019.4:c.754_755insCT
NM_000019.4:c.756_758delAGA
NM_000019.4:c.814C>T
NM_000019.3:c.826+1G>T
NM_000019.4:c.826+1G>T
NM_000019.4:c.844A>C
NM_000019.4:c.890C>T
NM_000019.4:c.901G>C
NM_000019.4:c.940+84C>T
NM_000019.3:c.1006-2A>C
NM_000019.4:c.1006-2A>C
NM_000019.3:c.1006-1G>C
NM_000019.4:c.1006-1G>C
NM_000019.3:c.1016_1018dupATG
NM_000019.3:c.1040T>C
NM_000019.4:c.1059T>A
NM_000019.4:c.1124A>G
NM_000019.4:c.1136G>T
NM_000019.4:c.1138G>A
NM_000019.3:c.1163+2T>C
NM_000019.4:c.1163+2T>C
NM_000019.3:c.1189C>G