Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Leu1464Pro (p.L1464P)
(
ENST00000225964.10 )
COL1A1 p.Leu1464Pro (p.L1464P) ( ENST00000225964.10 ) - Associated Disease
- Osteogenesis imperfecta type III
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.4391T>C (p.Leu1464Pro) AND Osteogenesis imperfecta type III
- ClinVar Allele ID
- 32371
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.4391T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018873
- ClinVar Disease
- Osteogenesis imperfecta type III
- Observed Origin Sample
- germline
- Pubmed
- 8723681
Drugs