Variant information
Systematic Name (NM_004992.3:) |
c.1282G>A |
---|---|
Protein name (NP_004983) |
p.Gly428Ser |
Alternate systematic Name (NM_001110792.1:) |
c.1318G>A |
Alternate Protein name (NP_001104262) |
p.(Gly440Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295997C>T |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1282G>A | p.Gly428Ser | Male | Not Rett synd. | 1150 | MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684 | View details |
2 | c.1282G>A | p.Gly428Ser | Male | Not Rett synd. | 1529 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 | View details |
3 | c.1282G>A | p.Gly428Ser | Female | Not Rett synd. | 1530 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 | View details |
4 | c.1282G>A | p.Gly428Ser | Male | Not Rett synd. | 1531 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 | View details |
5 | c.1282G>A | p.Gly428Ser | Female | Not Rett synd. | 1550 | MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684 | View details |
6 | c.1282G>A | p.Gly428Ser | Female | Not Rett synd. | 1551 | MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684 | View details |
7 | c.1282G>A | p.Gly428Ser | Female | Not Rett synd. | 1552 | MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684 | View details |