NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004023481.1
Allele description [Variation Report for NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)]
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jan 13, 2025