NM_000784.3(CYP27A1):c.-205C>A AND Cholestanol storage disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000281692.14
Allele description [Variation Report for NM_000784.3(CYP27A1):c.-205C>A]
NM_000784.3(CYP27A1):c.-205C>A
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024