Annotation Detail

Information
Associated Genes
RSPO4
Associated Variants
RSPO4 p.Cys118Tyr (p.C118Y) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Cys107Arg (p.C107R) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Gln101Ter (p.Q101*) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Cys73Tyr (p.C73Y) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Gly67Arg (p.G67R) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Gln65Arg (p.Q65R) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Arg64Cys (p.R64C) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Cys118Tyr (p.C118Y) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Cys107Arg (p.C107R) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Gln101Ter (p.Q101*) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Cys73Tyr (p.C73Y) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Gly67Arg (p.G67R) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Gln65Arg (p.Q65R) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Arg64Cys (p.R64C) ( ENST00000217260.9, ENST00000400634.2 )
RSPO4 p.Asn34GlufsTer63 (p.N34Efs*63)
RSPO4 p.Asn34GlufsTer63 (p.N34Efs*63)
Associated Disease
Anonychia
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.241628651232482
Year of publication
NA
Drugs