Annotation Detail

Information
Associated Genes
TACSTD2
Associated Variants
TACSTD2 p.Gln207Ter (p.Q207*) ( ENST00000371225.4 )
TACSTD2 p.Leu186Pro (p.L186P) ( ENST00000371225.4 )
TACSTD2 p.Ser170Ter (p.S170*) ( ENST00000371225.4 )
TACSTD2 p.Cys119Ser (p.C119S) ( ENST00000371225.4 )
TACSTD2 p.Gln118Ter (p.Q118*) ( ENST00000371225.4 )
TACSTD2 p.? (p.?) ( ENST00000371225.4 )
TACSTD2 p.Gln207Ter (p.Q207*) ( ENST00000371225.4 )
TACSTD2 p.Leu186Pro (p.L186P) ( ENST00000371225.4 )
TACSTD2 p.Ser170Ter (p.S170*) ( ENST00000371225.4 )
TACSTD2 p.Cys119Ser (p.C119S) ( ENST00000371225.4 )
TACSTD2 p.Gln118Ter (p.Q118*) ( ENST00000371225.4 )
TACSTD2 p.? (p.?) ( ENST00000371225.4 )
Associated Disease
Corneal dystrophy, Lattice type 3
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.364885953697445
Year of publication
NA
Drugs