Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Leu1464Pro (p.L1464P)
(
ENST00000225964.10 )
COL1A1 p.Gly1040Ser (p.G1040S) ( ENST00000225964.10 )
COL1A1 p.Gly1022Ser (p.G1022S) ( ENST00000225964.10 )
COL1A1 p.Gly839Ser (p.G839S) ( ENST00000225964.10 )
COL1A1 p.Gly704Cys (p.G704C) ( ENST00000225964.10 )
COL1A1 p.Gly704Ser (p.G704S) ( ENST00000225964.10 )
COL1A1 p.Gly530Cys (p.G530C) ( ENST00000225964.10 )
COL1A1 p.Gly530Ser (p.G530S) ( ENST00000225964.10 )
COL1A1 p.Gly332Arg (p.G332R) ( ENST00000225964.10 )
COL1A1 p.Gly320Val (p.G320V) ( ENST00000225964.10 )
COL1A1 p.Gly254Glu (p.G254E) ( ENST00000225964.10 )
COL1A1 p.Leu1464Pro (p.L1464P) ( ENST00000225964.10 )
COL1A1 p.Gly1040Ser (p.G1040S) ( ENST00000225964.10 )
COL1A1 p.Gly1022Ser (p.G1022S) ( ENST00000225964.10 )
COL1A1 p.Gly839Ser (p.G839S) ( ENST00000225964.10 )
COL1A1 p.Gly704Cys (p.G704C) ( ENST00000225964.10 )
COL1A1 p.Gly704Ser (p.G704S) ( ENST00000225964.10 )
COL1A1 p.Gly530Cys (p.G530C) ( ENST00000225964.10 )
COL1A1 p.Gly530Ser (p.G530S) ( ENST00000225964.10 )
COL1A1 p.Gly332Arg (p.G332R) ( ENST00000225964.10 )
COL1A1 p.Gly320Val (p.G320V) ( ENST00000225964.10 )
COL1A1 p.Gly254Glu (p.G254E) ( ENST00000225964.10 ) - Associated Disease
- Osteogenesis imperfecta type III (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.562442976848723
- Year of publication
- NA
Drugs