| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1513 | 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 |
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.