Annotation Detail
Information
- Associated Genes
- COL1A1 LOC126862586
- Associated Variants
-
COL1A1 p.Gly263Arg (p.G263R)
(
ENST00000225964.10 )
COL1A1 p.Gly263Arg (p.G263R) ( ENST00000225964.10 ) - Associated Disease
- osteogenesis imperfecta
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.787G>A (p.Gly263Arg) AND Osteogenesis imperfecta
- ClinVar Allele ID
- 32355
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.787G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1986-07-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018857
- ClinVar Disease
- Osteogenesis imperfecta
- Observed Origin Sample
- germline
- Pubmed
- 1137656
- Pubmed
- 3722186
Drugs