No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.905C>G |
p.Pro302Arg |
Female |
|
Rett syndrome-Not certain |
11 |
:Bunyan, D.:: |
2 |
c.905C>G |
p.Pro302Arg |
Female |
|
Rett syndrome-Not certain |
26 |
:Bunyan, D.:: |
3 |
c.905C>G |
p.Pro302Arg |
Unknown |
|
Rett syndrome-Not certain |
232 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 |
4 |
c.905C>G |
p.Pro302Arg |
Unknown |
|
Rett syndrome-Not certain |
233 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 |
5 |
c.905C>G |
p.Pro302Arg |
Female |
Neither parent has variation |
Rett syndrome-Classical |
938 |
MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
6 |
c.905C>G |
p.Pro302Arg |
Female |
|
Rett syndrome-Not certain |
1171 |
Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 |
7 |
c.905C>G |
p.Pro302Arg |
Unknown |
Mutation not carried by parents |
Rett syndrome-Not certain |
1302 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
8 |
c.905C>G |
p.Pro302Arg |
Unknown |
Mutation not carried by parents |
Rett syndrome-Not certain |
1303 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
9 |
c.905C>G |
p.Pro302Arg |
Female |
|
Rett syndrome-Not certain |
2175 |
:Cardiff, UK:: |
10 |
c.905C>G |
p.Pro302Arg |
Female |
|
Rett syndrome-Not certain |
2176 |
:Cardiff, UK:: |
11 |
c.905C>G |
p.Pro302Arg |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Classical |
2450 |
::: |
12 |
c.905C>G |
p.Pro302Arg |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Classical |
2466 |
::: |
13 |
c.905C>G |
p.Pro302Arg |
Female |
|
Rett syndrome-classical |
3398 |
Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 |
14 |
c.905C>G |
p.Pro302Arg |
Female |
de novo |
Rett syndrome-classical |
3678 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
15 |
c.905C>G |
p.Pro302Arg |
Female |
|
Rett syndrome-not certain |
4920 |
Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 |
16 |
c.905C>G |
p.Pro302Arg |
Female |
|
Rett syndrome-classical |
7036 |
MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
:Brain & Development: 29631775 |