NM_000784.4(CYP27A1):c.1184+9G>T AND Cholestanol storage disease
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000273860.15
Allele description [Variation Report for NM_000784.4(CYP27A1):c.1184+9G>T]
NM_000784.4(CYP27A1):c.1184+9G>T
Condition(s)
Assertion and evidence details
Last Updated: May 26, 2024