Variant information
Systematic Name (NM_004992.3:) |
c.1075T>C |
---|---|
Protein name (NP_004983) |
p.Ser359Pro |
Alternate systematic Name (NM_001110792.1:) |
c.1111T>C |
Alternate Protein name (NP_001104262) |
p.(Ser371Pro) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296204A>G |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1075T>C | p.Ser359Pro | Male | Rett syndrome-Male variant | 1388 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 | View details |
2 | c.1075T>C | p.Ser359Pro | Female | Not Rett synd. | 1389 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 | View details |
3 | c.1075T>C | p.Ser359Pro | Female | Not Rett synd. | 1390 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 | View details |
4 | c.1075T>C | p.Ser359Pro | Female | Not Rett synd. | 1391 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 | View details |
5 | c.1075T>C | p.Ser359Pro | Female | Not Rett synd. | 1392 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 | View details |
6 | c.1075T>C | p.Ser359Pro | Male | Not Rett synd. | 1393 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 | View details |
7 | c.1075T>C | p.Ser359Pro | Female | Rett syndrome-not certain | 3517 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |