NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) AND Osteogenesis imperfecta
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002276955.3
Allele description [Variation Report for NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)]
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024