Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 731 | 15 | c.2803A>C | p.Asn935His | DIIS5-S6 | Missense | P/O→P/﹢(68) | PEFS+ | Familial(Paternal,GEFS+),P=2/2 | Sun H.2008b |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 80 | c.2803A>C | p.Asn935His((DIIS5-S6) | Missense | PEFS+ | GEFS+(Paternal) | 2 | 2/2 | Sun H.2008b |
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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.