NM_000019.4(ACAT1):c.1191T>C (p.His397=) AND Deficiency of acetyl-CoA acetyltransferase
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001108623.10
Allele description [Variation Report for NM_000019.4(ACAT1):c.1191T>C (p.His397=)]
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
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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Homo sapiens terminal nucleotidyltransferase 4A (TENT4A), transcript variant 1, ...
Homo sapiens terminal nucleotidyltransferase 4A (TENT4A), transcript variant 1, mRNAgi|284507291|ref|NM_006999.4|Nucleotide
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Last Updated: Mar 30, 2024