Annotation Detail
Information
- Associated Genes
- TSPAN12
- Associated Variants
-
TSPAN12 c.361-5_361-1delACCAG
(
ENST00000222747.8,
ENST00000415871.5 )
TSPAN12 c.361-5_361-1delACCAG ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Leu245Pro (p.L245P) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Ala237Pro (p.A237P) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Gly188Arg (p.G188R) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Leu140Ter (p.L140*) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Tyr138Cys (p.Y138C) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Leu101His (p.L101H) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 c.285+1G>A ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Thr49Met (p.T49M) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Thr49Lys (p.T49K) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 c.67-1G>C ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Leu245Pro (p.L245P) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Ala237Pro (p.A237P) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Gly188Arg (p.G188R) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Leu140Ter (p.L140*) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Tyr138Cys (p.Y138C) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Leu101His (p.L101H) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 c.285+1G>A ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Thr49Met (p.T49M) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Thr49Lys (p.T49K) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 c.67-1G>C ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Leu74SerfsTer43 (p.L74Sfs*43)
TSPAN12 p.Leu74AlafsTer45 (p.L74Afs*45)
TSPAN12 p.Leu74SerfsTer43 (p.L74Sfs*43)
TSPAN12 p.Leu74AlafsTer45 (p.L74Afs*45) - Associated Disease
- exudative vitreoretinopathy 5
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- NA
Drugs