Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Arg1026Ter (p.R1026*)
(
ENST00000225964.10 )
COL1A1 p.Arg1026Ter (p.R1026*) ( ENST00000225964.10 ) - Associated Disease
- Lobstein's Disease
- Source Database
- DisGeNET
- Description
- Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report.
- Pubmed
- 23682531
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.327871814290329
- Year of publication
- 2013
Drugs