NM_000019.4(ACAT1):c.1128C>T (p.Ile376=) AND Deficiency of acetyl-CoA acetyltransferase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001425187.7
Allele description [Variation Report for NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)]
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
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
-
S41 family peptidase [Bradyrhizobium xenonodulans]
S41 family peptidase [Bradyrhizobium xenonodulans]gi|2422014533|gnl|PRJNA680005|I3J27 0|gb|WBL79231.1|Protein
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Last Updated: Sep 29, 2024