NM_001609.4(ACADSB):c.265A>G (p.Met89Val) AND Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001916237.6
Allele description [Variation Report for NM_001609.4(ACADSB):c.265A>G (p.Met89Val)]
NM_001609.4(ACADSB):c.265A>G (p.Met89Val)
Condition(s)
- Name:
- Deficiency of 2-methylbutyryl-CoA dehydrogenase (ACADSB)
- Synonyms:
- 2-methylbutyryl-CoA dehydrogenase deficiency; SBCAD deficiency; 2-methylbutyric aciduria; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012392; MedGen: C1864912; Orphanet: 79157; OMIM: 610006; Human Phenotype Ontology: HP:0020147
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Profile neighbors for GEO Profiles (Select 121408997) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 96136899) (19)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 62575873) (200)
GEO Profiles
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Mixture/Component Compounds for PubChem Compound (Select 16832734... (3)
Mixture/Component Compounds for PubChem Compound (Select 168327343)SearchPubChem Compound
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Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
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Last Updated: Mar 16, 2024