Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
89224c.4495T>Cp.Phe1499LeuDIII-DIVMissenseN→N (22)FHM + ERDBFamilial(Maternal,FHM),p=4/4Vahedi K. 2009



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
91c.4495T>Cp.Phe1499Leu(DIII-DIV)MissenseFHM + ERDBFHM(Maternal) 34/4Vahedi K, 2009



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