Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
97625c.4834G>Ap.Val1612IleDIVS3MissenseN→N (29)NAFamilial(Paternal)Depienne C.2009
SMEIFamilial(Maternal,asympt)Kwong AK.2012
SMENALee HF.2014



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
99c.4834G>Ap.Val1612Ile(DIVS3)MissenseNANA (Paternal) Depienne C.2009
SMEINo symptom(Maternal) Kwong AK.2012



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