Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Pro1483SerfsTer30 (p.P1483Sfs*30)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Pro1483SerfsTer30 (p.P1483Sfs*30) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Tyr1391Cys (p.Y1391C) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Gly600Val (p.G600V) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Tyr1391Cys (p.Y1391C) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly600Val (p.G600V) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.560542883744161
- Year of publication
- NA
Drugs