Proband information
Proband id | 3162 |
---|---|
Systematic Name (NM_004992.3:) |
c.917G>A |
Protein name (NP_004983) |
p.Arg306His |
Alternate systematic Name (NM_001110792.1:) |
c.953G>A |
Alternate Protein name (NP_001104262) |
p.(Arg318His) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296362C>T |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | SSCP, direct |
Extent | Exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-not certain |
Reference | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.917G>A | p.Arg306His | Female | Rett syndrome-Not certain | 3 | :Bunyan, D.:: | |
2 | c.917G>A | p.Arg306His | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 413 | ::: |
3 | c.917G>A | p.Arg306His | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 467 | ::: |
4 | c.917G>A | p.Arg306His | Female | Mother is not carrier, Father is not carrier | Not Known | 476 | ::: |
5 | c.917G>A | p.Arg306His | Female | Rett syndrome-Not certain | 1062 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | |
6 | c.917G>A | p.Arg306His | Female | Rett syndrome-Not certain | 1617 | :Bunyan, D.:: | |
7 | c.917G>A | p.Arg306His | Female | Rett syndrome-Not certain | 1630 | :Bunyan, D.:: | |
8 | c.917G>A | p.Arg306His | Female | Neither parent has variation | Rett syndrome-Not certain | 1827 | :Bunyan, D.:: |
9 | c.917G>A | p.Arg306His | Female | Rett syndrome-Not certain | 1906 | ::: | |
10 | c.917G>A | p.Arg306His | Female | Rett syndrome-classical | 1929 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | |
11 | c.917G>A | p.Arg306His | Female | Rett syndrome-Atypical | 2321 | :Cardiff, UK:: | |
12 | c.917G>A | p.Arg306His | Female | Rett syndrome-Atypical | 2328 | :Cardiff, UK:: | |
13 | c.917G>A | p.Arg306His | Female | Rett syndrome-Classical | 2331 | :Cardiff, UK:: | |
14 | c.917G>A | p.Arg306His | Female | Rett syndrome-Classical | 2332 | :Cardiff, UK:: | |
15 | c.917G>A | p.Arg306His | Female | Rett syndrome-not certain | 3159 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
16 | c.917G>A | p.Arg306His | Female | Rett syndrome-not certain | 3160 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
17 | c.917G>A | p.Arg306His | Female | Rett syndrome-not certain | 3161 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
18 | c.917G>A | p.Arg306His | Female | Rett syndrome-not certain | 3162 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
19 | c.917G>A | p.Arg306His | Female | Not Known | 4512 | :Das, S., Dempsey, M. U. Chicago:: |