Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Ala348Thr (p.A348T)
(
ENST00000225964.10 )
COL1A1 p.Ala348Thr (p.A348T) ( ENST00000225964.10 ) - Associated Disease
- osteogenesis imperfecta
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND Osteogenesis imperfecta
- ClinVar Allele ID
- 44561
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.1042G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-03-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000367913
- ClinVar Disease
- Osteogenesis imperfecta
- Observed Origin Sample
- germline
Drugs