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, 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 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, 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 Female Relative of proband 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 Female Relative of proband 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