Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Leu44TrpfsTer111 (p.L44Wfs*111)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000400024.6,
ENST00000544413.2 )
HNF1A p.Leu57TrpfsTer98 (p.L57Wfs*98) ( ENST00000541395.5, ENST00000544413.2, ENST00000400024.6, ENST00000257555.11 )
HNF1A p.Val173_Gln176delinsGlu (p.V173_Q176delinsE) ( ENST00000544413.2, ENST00000257555.11, ENST00000400024.6, ENST00000541395.5 )
HNF1A p.Lys222del (p.K222del) ( ENST00000544413.2, ENST00000257555.11, ENST00000400024.6, ENST00000541395.5 )
HNF1A p.Leu377SerfsTer7 (p.L377Sfs*7) ( ENST00000257555.11, ENST00000400024.6, ENST00000544413.2, ENST00000541395.5 )
HNF1A p.Leu44TrpfsTer111 (p.L44Wfs*111) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Leu57TrpfsTer98 (p.L57Wfs*98) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Val173_Gln176delinsGlu (p.V173_Q176delinsE) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Lys222del (p.K222del) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Leu377SerfsTer7 (p.L377Sfs*7) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.? (p.?) ( ENST00000257555.11, ENST00000541395.5, ENST00000400024.6, ENST00000544413.2 )
HNF1A p.Gly31Asp (p.G31D) ( ENST00000544413.2, ENST00000541395.5, ENST00000257555.11, ENST00000400024.6 )
HNF1A p.Gly31Ala (p.G31A) ( ENST00000541395.5, ENST00000400024.6, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Pro94Leu (p.P94L) ( ENST00000541395.5, ENST00000544413.2, ENST00000400024.6, ENST00000257555.11 )
HNF1A p.Pro112Leu (p.P112L) ( ENST00000541395.5, ENST00000400024.6, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Tyr122Cys (p.Y122C) ( ENST00000541395.5, ENST00000544413.2, ENST00000257555.11, ENST00000400024.6 )
HNF1A p.Arg131Trp (p.R131W) ( ENST00000400024.6, ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.His147Gln (p.H147Q) ( ENST00000541395.5, ENST00000544413.2, ENST00000400024.6, ENST00000257555.11 )
HNF1A p.Thr156Lys (p.T156K) ( ENST00000541395.5, ENST00000544413.2, ENST00000257555.11, ENST00000400024.6 )
HNF1A p.Thr156Met (p.T156M) ( ENST00000541395.5, ENST00000257555.11, ENST00000400024.6, ENST00000544413.2 )
HNF1A p.Arg200Trp (p.R200W) ( ENST00000541395.5, ENST00000544413.2, ENST00000257555.11, ENST00000400024.6 )
HNF1A p.Pro224Ser (p.P224S) ( ENST00000257555.11, ENST00000400024.6, ENST00000544413.2, ENST00000541395.5 )
HNF1A p.Arg244Ile (p.R244I) ( ENST00000541395.5, ENST00000257555.11, ENST00000400024.6, ENST00000544413.2 )
HNF1A p.Gly245Val (p.G245V) ( ENST00000541395.5, ENST00000544413.2, ENST00000400024.6, ENST00000257555.11 )
HNF1A p.Val264Phe (p.V264F) ( ENST00000257555.11, ENST00000400024.6, ENST00000544413.2, ENST00000541395.5 )
HNF1A p.Phe268Ser (p.F268S) ( ENST00000541395.5, ENST00000257555.11, ENST00000400024.6, ENST00000544413.2 )
HNF1A p.Ala276Asp (p.A276D) ( ENST00000541395.5, ENST00000544413.2, ENST00000257555.11, ENST00000400024.6 )
HNF1A p.Ala276Gly (p.A276G) ( ENST00000541395.5, ENST00000400024.6, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Pro291Gln (p.P291Q) ( ENST00000400024.6, ENST00000257555.11, ENST00000544413.2, ENST00000541395.5 )
HNF1A p.Pro291Arg (p.P291R) ( ENST00000541395.5, ENST00000400024.6, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Pro291Leu (p.P291L) ( ENST00000541395.5, ENST00000544413.2, ENST00000400024.6, ENST00000257555.11 )
HNF1A p.Leu422Pro (p.L422P) ( ENST00000257555.11, ENST00000400024.6, ENST00000544413.2, ENST00000541395.5 )
HNF1A p.Pro447Leu (p.P447L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro475Gln (p.P475Q) ( ENST00000541395.5, ENST00000544413.2, ENST00000400024.6, ENST00000257555.11 )
HNF1A p.Pro475Leu (p.P475L) ( ENST00000541395.5, ENST00000544413.2, ENST00000257555.11, ENST00000400024.6 )
HNF1A p.Ser531Thr (p.S531T) ( ENST00000541395.5, ENST00000544413.2, ENST00000257555.11 )
HNF1A p.Leu562Phe (p.L562F) ( ENST00000541395.5, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Ser581Gly (p.S581G) ( ENST00000544413.2, ENST00000257555.11, ENST00000541395.5 )
HNF1A p.His589Arg (p.H589R) ( ENST00000541395.5, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Arg590Gly (p.R590G) ( ENST00000541395.5, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Arg590Gln (p.R590Q) ( ENST00000541395.5, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Thr627Ile (p.T627I) ( ENST00000544413.2, ENST00000288757.7, ENST00000257555.11, ENST00000541395.5 )
HNF1A p.? (p.?) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Gly31Asp (p.G31D) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Gly31Ala (p.G31A) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro94Leu (p.P94L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro112Leu (p.P112L) ( ENST00000400024.6, ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Tyr122Cys (p.Y122C) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Arg131Trp (p.R131W) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.His147Gln (p.H147Q) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Thr156Lys (p.T156K) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Thr156Met (p.T156M) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Arg200Trp (p.R200W) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro224Ser (p.P224S) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Arg244Ile (p.R244I) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Gly245Val (p.G245V) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Val264Phe (p.V264F) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Phe268Ser (p.F268S) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Ala276Asp (p.A276D) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Ala276Gly (p.A276G) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro291Gln (p.P291Q) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro291Arg (p.P291R) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro291Leu (p.P291L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Leu422Pro (p.L422P) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro447Leu (p.P447L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro475Gln (p.P475Q) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro475Leu (p.P475L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Ser531Thr (p.S531T) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Leu562Phe (p.L562F) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Ser581Gly (p.S581G) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.His589Arg (p.H589R) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Arg590Gly (p.R590G) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Arg590Gln (p.R590Q) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Thr627Ile (p.T627I) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2, ENST00000288757.7 )
HNF1A p.Glu105GlyfsTer83 (p.E105Gfs*83)
HNF1A p.His126delinsArgAsn (p.H126delinsRN)
HNF1A p.Gly292ArgfsTer25 (p.G292Rfs*25)
HNF1A p.Tyr503LeufsTer29 (p.Y503Lfs*29)
HNF1A p.Glu105GlyfsTer83 (p.E105Gfs*83)
HNF1A p.His126delinsArgAsn (p.H126delinsRN)
HNF1A p.Gly292ArgfsTer25 (p.G292Rfs*25)
HNF1A p.Tyr503LeufsTer29 (p.Y503Lfs*29) - Associated Disease
- MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.444614511825365
- Year of publication
- NA
Drugs