Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Gly530Cys (p.G530C)
(
ENST00000225964.10 )
COL1A1 p.Gly530Cys (p.G530C) ( ENST00000225964.10 ) - Associated Disease
- Osteogenesis imperfecta type I
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.1588G>T (p.Gly530Cys) AND Osteogenesis imperfecta type I
- ClinVar Allele ID
- 1403245
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.1588G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-11-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001914424
- ClinVar Disease
- Osteogenesis imperfecta type I
- Observed Origin Sample
- germline
Drugs