By variant position
By protein location
By phenotype
By mutation
By inheritance
By author
Latest mutation
Table legend
Latest mutations will be put here before adding into the database and statistics.
Newly identified mutation:
Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
---|---|---|---|---|---|---|---|---|---|
Newly reported cases(mutations have been reported previously): |
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.