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:: |