NM_022356.4(P3H1):c.611C>A (p.Pro204His) AND Osteogenesis Imperfecta, Recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096112.4
Allele description [Variation Report for NM_022356.4(P3H1):c.611C>A (p.Pro204His)]
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
Condition(s)
- Name:
- Osteogenesis Imperfecta, Recessive
- Identifiers:
- MedGen: CN239451
Assertion and evidence details
Last Updated: Feb 28, 2024