Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
166926c.5493delTp.Phe1831LeufX27C-terminalFrameshiftHaploinsufficiencySMEIFamilial(Maternal,mosaic,IGE),P=2/2Depienne C.2009


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
165c.5493delTp.Phe1831LeufX27(C-terminal)FrameshiftSMEIIGE(Maternal)Mosaic(~22%)22/2Depienne C.2010