Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 580 | IVS12 | c.2177-11dupT | DI-DII | Splice acceptor site | ND | GEFS+ | 2Familial(Paternal&Maternal,asympt) | Mrabet H.2007 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 64 | c.2177-11dupT | ND(DI-DII) | Splice acceptor site | GEFS+ | No symptom (Paternal&Maternal) | 2 | Mrabet H.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.