NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys) AND Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000389649.13
Allele description [Variation Report for NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys)]
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys)
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
Assertion and evidence details
Last Updated: Feb 28, 2024