NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala) AND Osteogenesis imperfecta type I
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 26, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253008.1
Allele description [Variation Report for NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala)]
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala)
Condition(s)
- Name:
- Osteogenesis imperfecta type I (OI1)
- Synonyms:
- OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200
Assertion and evidence details
Last Updated: Feb 13, 2023