Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 857 | 16 | c.3112T>C | p.Phe1038Leu | DII-DIII | Missense | N→N (22) | ASD | Familial(Paternal,asympt),P=2/3 | Weiss LA.2003 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 60 | c.3112T>C | p.Phe1038Leu(DII-DIII) | Missense | ASD | No symptom(Paternal) | 2 | 2/3 | Weiss LA.2003 |
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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.