| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1765 | 5?UTR (noncoding exon) | del SCN1A 5?UTR (73.8Kb) | del SCN1A | 5?UTR | Partial gene deletion | SMEI | De novo | Nakayama T.2010 |
Functional information:
| Number | DNA position | Location | Phenotype | Details of the abnormal result | Reference |
|---|---|---|---|---|---|
| 1 | del SCN1A 5?UTR (73.8Kb) | 5' UTR | SMEI | The deletion of two sequences with promoter function. | Nakayama T. 2010 |
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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.