NM_000019.3(ACAT1):c.*384A>C AND Deficiency of acetyl-CoA acetyltransferase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001103448.13
Allele description [Variation Report for NM_000019.3(ACAT1):c.*384A>C]
NM_000019.3(ACAT1):c.*384A>C
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: Nov 30, 2024