NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro) AND Deficiency of acetyl-CoA acetyltransferase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003840235.2
Allele description [Variation Report for NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)]
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
Condition(s)
- Name:
- Deficiency of acetyl-CoA acetyltransferase
- Synonyms:
- Alpha-methylacetoaceticaciduria; 2-methyl-3-hydroxybutyricacidemia; Mitochondrial acetoacetyl-CoA Thiolase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008760; MedGen: C1536500; Orphanet: 134; OMIM: 203750
Assertion and evidence details
Last Updated: Sep 29, 2024