Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.His539ThrfsTer21 (p.H539Tfs*21)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Ser600Ter (p.S600*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.His539ThrfsTer21 (p.H539Tfs*21) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ser600Ter (p.S600*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA c.494-1G>C ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Tyr167Ter (p.Y167*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Tyr167= (p.Y167=) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Gln310Ter (p.Q310*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA c.972+1G>A ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ala327Pro (p.A327P) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Leu346Arg (p.L346R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Asp349Asn (p.D349N) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Thr366Pro (p.T366P) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Trp402Ter (p.W402*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Gly409Arg (p.G409R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA c.1402+1G>C ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Leu490Pro (p.L490P) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Pro510Arg (p.P510R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Pro533Arg (p.P533R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA c.1650+5G>A ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Arg621Gly (p.R621G) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Arg621Ter (p.R621*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Tyr625Cys (p.Y625C) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ter654Trpext*? (p.*654Wext*?) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ter654Cysext*? (p.*654Cext*?) ( ENST00000247933.9, ENST00000514224.2 )
IDUA c.494-1G>C ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Tyr167Ter (p.Y167*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Tyr167= (p.Y167=) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Gln310Ter (p.Q310*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA c.972+1G>A ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ala327Pro (p.A327P) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Leu346Arg (p.L346R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Asp349Asn (p.D349N) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Thr366Pro (p.T366P) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Trp402Ter (p.W402*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Gly409Arg (p.G409R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA c.1402+1G>C ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Leu490Pro (p.L490P) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Pro510Arg (p.P510R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Pro533Arg (p.P533R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA c.1650+5G>A ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Arg621Gly (p.R621G) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Arg621Ter (p.R621*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Tyr625Cys (p.Y625C) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ter654Trpext*? (p.*654Wext*?) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ter654Cysext*? (p.*654Cext*?) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ser206LeufsTer30 (p.S206Lfs*30)
IDUA p.Ser206LeufsTer30 (p.S206Lfs*30) - Associated Disease
- Pfaundler-Hurler Syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.452410381245573
- Year of publication
- NA
Drugs