NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter) AND Osteoporosis with pseudoglioma
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002052059.1
Allele description [Variation Report for NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter)]
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023