By variant position
By protein location
By phenotype
By mutation
By inheritance
By author
Latest mutation
Table legend
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 30 | 1 | c.140delA | p.Asn47MetfsX45 | N-terminal | Frameshift | Haploinsufficiency | EP and NDD | mosaic pathogenic variant | Stosser MB.2018 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 5 | c.140delA | p.Asn47MetfsX45(N-terminal) | Frameshift | Ep and NDD | mosaic pathogenic variant | mosaic (26%) | Stosser MB.2018 |
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.