Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1695 | 25 | c.5569G>T | p.Val1857Leu | C-terminal | Missense | N→N (32) | GEFS+ | Familial(Paternal,FS),P=2/2 | Nagao Y.2005 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 167 | c.5569G>T | p.Val1857Leu(C-terminal) | Missense | GEFS+ | FS(Paternal) | 2 | 2/2 | Nagao Y.2005 |
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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.