Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Gly1022Ser (p.G1022S)
(
ENST00000225964.10 )
COL1A1 p.Gly1022Ser (p.G1022S) ( ENST00000225964.10 ) - Associated Disease
- Osteogenesis imperfecta type III (disorder)
- Source Database
- DisGeNET
- Description
- Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.
- Pubmed
- 23072183
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.562442976848723
- Year of publication
- 2012
Drugs