Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
130IVS3c.473+5G>A DIS2Splice donor siteNormal transcripts﹢ del.exon 3 and partial exon 2SMEINADepienne C.2009

Functional information:
NumberIntronNucleotide changePhenotypeDetails of the abnormal resultProtein changeReference
4IVS 3c.473+5G>APEFS+Normal transcripts, and aberrant transcripts with deletion of exon 3 and partial exon 2 (8bp) . p.Val126IlefsX10Meng H, Epilepsia 2013: 54(Suppl.3): 192