NM_004035.7(ACOX1):c.408T>C (p.Tyr136=) AND Acyl-CoA oxidase deficiency
- Germline classification:
- Conflicting classifications of pathogenicity (2 submissions)
- Last evaluated:
- Jul 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001124775.9
Allele description [Variation Report for NM_004035.7(ACOX1):c.408T>C (p.Tyr136=)]
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=)
Condition(s)
- Name:
- Acyl-CoA oxidase deficiency
- Synonyms:
- STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY; Pseudoneonatal adrenoleukodystrophy; Pseudoadrenoleukodystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009919; MedGen: C1849678; Orphanet: 2971; OMIM: 264470
Assertion and evidence details
Last Updated: Jan 19, 2025