NM_000088.4(COL1A1):c.1876-19T>C AND Osteogenesis imperfecta type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002942924.2
Allele description [Variation Report for NM_000088.4(COL1A1):c.1876-19T>C]
NM_000088.4(COL1A1):c.1876-19T>C
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
-
GAD2 [Ornithorhynchus anatinus]
GAD2 [Ornithorhynchus anatinus]Gene ID:100075098Gene
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Last Updated: Feb 14, 2024