Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
104726c.5047A>Tp.Ile1683PheDIVS5MissenseN→N (21)UnclassifiedFamilial(Maternal)Zuberi SM.2011



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
115c.5047A>Tp.Ile1683Phe(DIVS5)MissenseunclassifiedNA (Maternal) Zuberi SM.2011



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