Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Thr1439Met (p.T1439M)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Thr1439Lys (p.T1439K) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Gly1197Ser (p.G1197S) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly1173Arg (p.G1173R) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Gly1092Asp (p.G1092D) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Arg989Cys (p.R989C) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly504Cys (p.G504C) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly453Ala (p.G453A) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Thr1439Met (p.T1439M) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Thr1439Lys (p.T1439K) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly1197Ser (p.G1197S) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly1173Arg (p.G1173R) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly1092Asp (p.G1092D) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg989Cys (p.R989C) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly504Cys (p.G504C) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly453Ala (p.G453A) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- spondyloepiphyseal dysplasia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.125428837441606
- Year of publication
- NA
Drugs