Variant information


Systematic Name c.1126C>T
Protein name p.Pro376Ser
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Not known
Detection Not known
Extent Not known
Evidence of Pathogenicity
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 152 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
2 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 153 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
3 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1538 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.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1539 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.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1570 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
6 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1655 :::
7 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 1724 :Friez, Michael::
8 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 1757 :Friez, Michael::
9 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1908 :::
10 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 2126 :Cardiff, UK::
11 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 2153 :Cardiff, UK::
12 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 2493 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307
13 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 2495 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307
14 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Rett syndrome-classical 2858 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420
15 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4045 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420
16 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 4072 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
17 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4073 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860