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Latest mutation
Table legend
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 418 | 9 | c.1196A>T | p.Tyr399Phe | DIS5-S6 | Missense | P/O→N (22) | GEFS+ | simple febrile seizures in his father | Gauthier AC.2017 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 43 | c.1196A>T | p.Tyr399Phe(DIS5-S6) | Missense | GEFS+ | FS(paternal) | 2 | 2/2 | Gauthier AC.2017 |
Copyright ©2014 Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University
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.