NM_004035.7(ACOX1):c.287G>A (p.Arg96Gln) AND ACOX1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004548415.1
Allele description [Variation Report for NM_004035.7(ACOX1):c.287G>A (p.Arg96Gln)]
NM_004035.7(ACOX1):c.287G>A (p.Arg96Gln)
Condition(s)
- Name:
- ACOX1-related disorder
- Synonyms:
- ACOX1-related disorders; ACOX1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Feb 1, 2025