Proband information
Proband id | 1529 |
---|---|
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 |
Evidence of Pathogenicity | |
Detection | Not known |
Extent | Not known |
Source of DNA | Not known |
Carrier | Y |
Carrier result | Unaffected mother is carrier, unaffected maternal grandfather is carrier |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | Not known |
Phenotype-class | Not Rett synd.-Progressive encephalopathy of neonatal onset |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1282G>A | p.Gly428Ser | Male | Unaffected mother has variation, unaffected brother does not have variation, two unaffected aunts have variation | 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 |
2 | c.1282G>A | p.Gly428Ser | Male | Unaffected mother is carrier, unaffected maternal grandfather is carrier | 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 |
3 | c.1282G>A | p.Gly428Ser | Female | Relative of proband | 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 |
4 | c.1282G>A | p.Gly428Ser | Male | Relative of proband | 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 |
5 | c.1282G>A | p.Gly428Ser | Female | Relative of proband | 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 |
6 | c.1282G>A | p.Gly428Ser | Female | Relative of proband | 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 |
7 | c.1282G>A | p.Gly428Ser | Female | Relative of proband | 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 |