Annotation Detail

Information
Associated Genes
NLRP7
Associated Variants
NLRP7 p.Pro651Ser (p.P651S) ( ENST00000328092.9, ENST00000340844.6, ENST00000588756.5, ENST00000590030.5, ENST00000592784.6 )
NLRP7 p.Arg432Ter (p.R432*) ( ENST00000328092.9, ENST00000340844.6, ENST00000588756.5, ENST00000590030.5, ENST00000592784.6 )
NLRP7 p.Leu398Arg (p.L398R) ( ENST00000328092.9, ENST00000340844.6, ENST00000588756.5, ENST00000590030.5, ENST00000592784.6 )
NLRP7 p.Pro651Ser (p.P651S) ( ENST00000328092.9, ENST00000340844.6, ENST00000588756.5, ENST00000590030.5, ENST00000592784.6 )
NLRP7 p.Arg432Ter (p.R432*) ( ENST00000328092.9, ENST00000340844.6, ENST00000588756.5, ENST00000590030.5, ENST00000592784.6 )
NLRP7 p.Leu398Arg (p.L398R) ( ENST00000328092.9, ENST00000340844.6, ENST00000588756.5, ENST00000590030.5, ENST00000592784.6 )
NLRP7 p.Leu114ValfsTer6 (p.L114Vfs*6)
NLRP7 p.Leu114ValfsTer6 (p.L114Vfs*6)
Associated Disease
Gestational trophoblastic disease
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.12
Year of publication
NA
Drugs