NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) AND Deficiency of acetyl-CoA acetyltransferase
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000844786.7
Allele description [Variation Report for NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)]
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)
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
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putative RNA polymerase II transcriptional coactivator, partial [Eueides isabell...
putative RNA polymerase II transcriptional coactivator, partial [Eueides isabella]gi|2570878415|gb|WMK87638.1|Protein
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Last Updated: Mar 30, 2024