Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Gly194ValfsTer71 (p.G194Vfs*71)
(
ENST00000225964.10 )
COL1A1 p.Gly194ValfsTer71 (p.G194Vfs*71) ( ENST00000225964.10 ) - Associated Disease
- osteogenesis imperfecta
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.579del (p.Gly194fs) AND Osteogenesis imperfecta
- ClinVar Allele ID
- 44589
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.579del
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2019-12-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029580
- ClinVar Disease
- Osteogenesis imperfecta
- Observed Origin Sample
- germline
Drugs