Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Asn1264ArgfsTer22 (p.N1264Rfs*22)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Gly1047AlafsTer83 (p.G1047Afs*83) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly405ValfsTer224 (p.G405Vfs*224) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Ala353GlnfsTer276 (p.A353Qfs*276) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly351AlafsTer278 (p.G351Afs*278) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Asn1264ArgfsTer22 (p.N1264Rfs*22) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly1047AlafsTer83 (p.G1047Afs*83) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly405ValfsTer224 (p.G405Vfs*224) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Ala353GlnfsTer276 (p.A353Qfs*276) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly351AlafsTer278 (p.G351Afs*278) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg1036Ter (p.R1036*) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Arg1036Gly (p.R1036G) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Arg932Ter (p.R932*) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Gln844Ter (p.Q844*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly810Cys (p.G810C) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Leu667Phe (p.L667F) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Leu667Ile (p.L667I) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg653Ter (p.R653*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly621Arg (p.G621R) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg565Cys (p.R565C) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 c.1420-2A>C ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Gly303Asp (p.G303D) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 c.762+1G>A ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg209Ter (p.R209*) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Cys86Ter (p.C86*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 c.85+1G>C ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Arg1036Ter (p.R1036*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg1036Gly (p.R1036G) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg932Ter (p.R932*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gln844Ter (p.Q844*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly810Cys (p.G810C) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Leu667Phe (p.L667F) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Leu667Ile (p.L667I) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg653Ter (p.R653*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly621Arg (p.G621R) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg565Cys (p.R565C) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 c.1420-2A>C ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly303Asp (p.G303D) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 c.762+1G>A ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg209Ter (p.R209*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Cys86Ter (p.C86*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 c.85+1G>C ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Stickler syndrome, type 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.483257302464964
- Year of publication
- NA
Drugs