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.Cys1438Ter (p.C1438*) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Tyr1391Cys (p.Y1391C) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 c.1420-2A>C ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Thr1439Met (p.T1439M) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Thr1439Lys (p.T1439K) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Cys1438Ter (p.C1438*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Tyr1391Cys (p.Y1391C) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 c.1420-2A>C ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Spondyloperipheral dysplasia short ulna
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.361357209360401
- Year of publication
- NA
Drugs