Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
40113c.2369A>Gp.Tyr790CysDIIS1-S2MissenseP/O→N (194)GEFS+Familial(Paternal,FS),P=3/3Annesi G.2003
PSFamilialOrrico A.2009



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
44c.2369A>Gp.Tyr790Cys(DIIS1-S2)MissenseGEFS+FS(Paternal) 23/3Annesi G.2003
PSNA Orrico A.2009



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