Proband information


Proband id 1552
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 220 chromosomes tested and not found in 220 chromosomes
Detection
Extent
Source of DNA
Carrier 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 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