NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp) AND Osteogenesis imperfecta type III
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 16, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000496033.2
Allele description [Variation Report for NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp)]
NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp)
Condition(s)
- Name:
- Osteogenesis imperfecta type III (OI3)
- Synonyms:
- Osteogenesis imperfecta type 3; OI type 3; Osteogenesis imperfecta, progressively deforming with normal sclerae; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009804; MedGen: C0268362; Orphanet: 666; OMIM: 259420
Assertion and evidence details
Last Updated: Sep 1, 2024