NM_000784.4(CYP27A1):c.1167G>A (p.Val389=) AND Cholestanol storage disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003613352.2
Allele description [Variation Report for NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)]
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024