NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) AND Cholestanol storage disease
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000595702.9
Allele description [Variation Report for NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)]
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
Condition(s)
-
Radial pulse absent
Radial pulse absentMedGen
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024