NM_000019.4(ACAT1):c.239-8del AND Deficiency of acetyl-CoA acetyltransferase
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002503169.4
Allele description [Variation Report for NM_000019.4(ACAT1):c.239-8del]
NM_000019.4(ACAT1):c.239-8del
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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arabinan endo-1,5-alpha-L-arabinosidase [Muribaculum gordoncarteri]
arabinan endo-1,5-alpha-L-arabinosidase [Muribaculum gordoncarteri]gi|1622717939|gnl|PRJNA524751|E7746 0|gb|QCD36533.1|Protein
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Picochlorum sp. RCC14 18S ribosomal RNA gene, partial sequence
Picochlorum sp. RCC14 18S ribosomal RNA gene, partial sequencegi|959096315|gb|KT860854.1|Nucleotide
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Chloropicon primus clone KJ34-0.2-66 18S ribosomal RNA gene, partial sequence; i...
Chloropicon primus clone KJ34-0.2-66 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequencegi|984294644|gb|KT390105.1|Nucleotide
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Last Updated: Sep 29, 2024