NM_000017.4(ACADS):c.321T>C (p.Arg107=) AND Deficiency of butyryl-CoA dehydrogenase
- Germline classification:
- Benign (4 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:
- RCV000263245.15
Allele description [Variation Report for NM_000017.4(ACADS):c.321T>C (p.Arg107=)]
NM_000017.4(ACADS):c.321T>C (p.Arg107=)
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: Sep 29, 2024