Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
68719c.3809A>Cp.Lys1270ThrDIIIS2MissenseP/﹢→P/O (78)PEFS+Familial(Maternal,GEFS+),P=13/14Abou-Khalil B.2001



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
69c.3809A>Cp.Lys1270Thr(DIIIS2)MissensePEFS+GEFS+(Maternal) ≥313/14Abou-Khalil B.2001



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