Annotation Detail

Information
Associated Genes
PRNP
Associated Variants
PRNP p.Pro76_Gln91del (p.P76_Q91del) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro84_Gln91del (p.P84_Q91del) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro76_Gln91del (p.P76_Q91del) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro84_Gln91del (p.P84_Q91del) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro84_Gln91dup (p.P84_Q91dup) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro76_Gln91dup (p.P76_Q91dup) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln (p.Q91_G92insPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQ) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro84_Gln91dup (p.P84_Q91dup) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro76_Gln91dup (p.P76_Q91dup) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln (p.Q91_G92insPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQ) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
Associated Disease
Huntington disease-like 1
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.36
Year of publication
NA
Drugs