Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1157 | 21 | c.4240A>G | p.Asn1414Asp | DIIIS5-S6 | Missense | P/O→P/﹣(23) | GEFS+ | Familial(Paternal) | Zuberi SM.2011 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 111 | c.4240A>G | p.Asn1414Asp(DIIIS5-S6) | Missense | GEFS+ | NA (Paternal) | Marini C.2007 |
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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.