NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) AND Vitamin D-dependent rickets, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000318208.5
Allele description [Variation Report for NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)]
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024