NM_000088.4(COL1A1):c.2784del (p.Gly929fs) AND Osteogenesis imperfecta type I
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000689473.7
Allele description
NM_000088.4(COL1A1):c.2784del (p.Gly929fs)
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
-
RecName: Full=Protein FAM181B
RecName: Full=Protein FAM181Bgi|81895148|sp|Q80VF6.1|F181B_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024