Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
69019c.3820T>Ap.Tyr1274AsnDIIIS4MissenseP/O→P/O (143)GEFS+Familial(Paternal)Ebrahimi A.2010
NANAMoghaddasi M.2011
GEFS+NATonekaboni SH.2013



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
70c.3820T>Ap.Tyr1274Asn(DIIIS4)MissenseGEFS+NA(Paternal) Ebrahimi A.2010



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