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Latest mutation
Table legend
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1856 | exon 8-16 | dup SCN1A exon 8-16 | dup SCN1A | Partial gene duplication | SME | Familial(Maternal,mosaic,FS), p=2/2 | Marini C.2009 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 179 | dup SCN1A exon 8-16 | Dup SCN1A | Partial gene duplication | SMEI | FS(Maternal) | Mosaic(~32.5%) | 2 | 2/2 | Marini C.2009 |
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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.