NM_001609.4(ACADSB):c.1128+3A>T AND Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000334212.9
Allele description [Variation Report for NM_001609.4(ACADSB):c.1128+3A>T]
NM_001609.4(ACADSB):c.1128+3A>T
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
-
eggc.vipI9N (0)
BioProject
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Last Updated: Feb 4, 2024