NM_000017.4(ACADS):c.327C>T (p.Cys109=) AND Deficiency of butyryl-CoA dehydrogenase
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001114910.11
Allele description [Variation Report for NM_000017.4(ACADS):c.327C>T (p.Cys109=)]
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
Condition(s)
- Name:
- Deficiency of butyryl-CoA dehydrogenase (ACADSD)
- Synonyms:
- ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency; SCAD DEFICIENCY, MILD
- Identifiers:
- MONDO: MONDO:0008722; MedGen: C0342783; Orphanet: 26792; OMIM: 201470
Assertion and evidence details
Last Updated: Oct 20, 2024