Variant information


Systematic Name c.1282G>A
Protein name p.Gly428Ser
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked 220 chromosomes tested and not found in 220 chromosomes
Carrier status checked NA
Carrier result Relative of proband
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-Unaffected family member
Reference MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Bela´d, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, ValÚrie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1150 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Bela´d, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, ValÚrie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
2 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease 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
3 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease 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
4 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease 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
5 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 1550 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Bela´d, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, ValÚrie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
6 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 1551 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Bela´d, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, ValÚrie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
7 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 1552 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Bela´d, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, ValÚrie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684