Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Leu667Phe (p.L667F)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Leu667Ile (p.L667I) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly642Ter (p.G642*) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Gly267Asp (p.G267D) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Cys64= (p.C64=) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Cys64Ter (p.C64*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Cys57Tyr (p.C57Y) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Trp47Ter (p.W47*) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Leu667Phe (p.L667F) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Leu667Ile (p.L667I) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly642Ter (p.G642*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly267Asp (p.G267D) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Cys64= (p.C64=) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Cys64Ter (p.C64*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Cys57Tyr (p.C57Y) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Trp47Ter (p.W47*) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Stickler syndrome, type I, nonsyndromic ocular
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- NA
Drugs