Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Phe883SerfsTer68 (p.F883Sfs*68)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Phe883SerfsTer68 (p.F883Sfs*68) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Arg42Ter (p.R42*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682059.1, ENST00000682275.1, ENST00000684054.1, ENST00000684087.1, ENST00000684700.1 )
WFS1 p.Gln226Ter (p.Q226*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Pro504Leu (p.P504L) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Arg558Ser (p.R558S) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Arg558Cys (p.R558C) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Trp648Ter (p.W648*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Trp648Cys (p.W648C) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Ala684Val (p.A684V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gly695Asp (p.G695D) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gly695Val (p.G695V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Val707Ile (p.V707I) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Val707Phe (p.V707F) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Ala716Thr (p.A716T) ( ENST00000503569.5, ENST00000506362.2, ENST00000226760.5, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Pro724Leu (p.P724L) ( ENST00000503569.5, ENST00000226760.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Cys755Arg (p.C755R) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gln819Ter (p.Q819*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Arg42Ter (p.R42*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682059.1, ENST00000682275.1, ENST00000684054.1, ENST00000684087.1, ENST00000684700.1 )
WFS1 p.Gln226Ter (p.Q226*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Pro504Leu (p.P504L) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Arg558Ser (p.R558S) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Arg558Cys (p.R558C) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Trp648Ter (p.W648*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Trp648Cys (p.W648C) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Ala684Val (p.A684V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gly695Asp (p.G695D) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gly695Val (p.G695V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Val707Ile (p.V707I) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Val707Phe (p.V707F) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Ala716Thr (p.A716T) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Pro724Leu (p.P724L) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Cys755Arg (p.C755R) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gln819Ter (p.Q819*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Val142GlyfsTer110 (p.V142Gfs*110)
WFS1 p.Val142GlyfsTer110 (p.V142Gfs*110) - Associated Disease
- Wolfram syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.62611927926214
- Year of publication
- NA
Drugs