NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) AND Cholestanol storage disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001451694.7
Allele description [Variation Report for NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=)]
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024