NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) AND Osteogenesis imperfecta
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001260276.2
Allele description [Variation Report for NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala)]
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024