Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Gly1040Ser (p.G1040S)
(
ENST00000225964.10 )
COL1A1 p.Gly1040Ser (p.G1040S) ( ENST00000225964.10 ) - Associated Disease
- Osteogenesis imperfecta type I
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) AND Osteogenesis imperfecta type I
- ClinVar Allele ID
- 32369
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.3118G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001245193
- ClinVar Disease
- Osteogenesis imperfecta type I
- Observed Origin Sample
- germline
Drugs