NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000764737.10
Allele description [Variation Report for NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)]
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
Condition(s)
- Name:
- Osteogenesis imperfecta with normal sclerae, dominant form (OI4)
- Synonyms:
- Osteogenesis imperfecta type 4; OI type 4; Osteogenesis imperfecta with normal sclerae; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008148; MedGen: C0268363; Orphanet: 666; OMIM: 166220
- Name:
- Postmenopausal osteoporosis
- Synonyms:
- BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS; OSTEOPOROSIS, INVOLUTIONAL
- Identifiers:
- MONDO: MONDO:0008159; MedGen: C0029458
- Name:
- Osteogenesis imperfecta, perinatal lethal (OI2)
- Synonyms:
- OI, TYPE II; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008147; MedGen: C0268358; OMIM: 166210
- 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: Apr 15, 2024