Proband information


Proband id 4045
Systematic Name
(NM_004992.3:)
c.1126C>T
Protein name
(NP_004983)
p.Pro376Ser
Alternate systematic Name
(NM_001110792.1:)
c.1162C>T
Alternate Protein name
(NP_001104262)
p.(Pro388Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296153G>A
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent exons 2-4
Source of DNA NK
Carrier Y
Carrier result in daughter with RTT
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1126C>T p.Pro376Ser Male Relative of proband 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 Female Relative of proband 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 Female Unaffected father is carrier 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 Male Relative of proband 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 Male Affected mother 226-I-1 is homozygous for variation (226-I-1's parents are cousins) 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 Female Rett syndrome-Not certain 1655 :::
7 c.1126C>T p.Pro376Ser Female Not Known 1724 :Friez, Michael::
8 c.1126C>T p.Pro376Ser Female Not Known 1757 :Friez, Michael::
9 c.1126C>T p.Pro376Ser Male Not Rett synd. 1908 :::
10 c.1126C>T p.Pro376Ser Female Not Known 2126 :Cardiff, UK::
11 c.1126C>T p.Pro376Ser Male Not Rett synd. 2153 :Cardiff, UK::
12 c.1126C>T p.Pro376Ser Female Father has variation 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 Female Father has variation 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 Female mother asymptomatic carrier 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 Female in daughter with RTT 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 Female in unaffected mother 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 Female in daughter with RTT Not Rett synd. 4073 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860