No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.710delG |
p.Gly237fs |
Female |
|
Rett syndrome-Not certain |
1110 |
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 |
2 |
c.710delG |
p.Gly237fs |
Unknown |
|
Rett syndrome-Not certain |
1358 |
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 |
3 |
c.710delG |
p.Gly237fs |
Unknown |
|
Rett syndrome-Not certain |
1359 |
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 |
4 |
c.710delG |
p.Gly237fs |
Unknown |
|
Rett syndrome-Not certain |
1360 |
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 |
5 |
c.710delG |
p.Gly237fs |
Female |
Neither parent has variation |
Rett syndrome-Not certain |
1598 |
:Bunyan, D.:: |
6 |
c.710delG |
p.Gly237fs |
Female |
|
Not Known |
1734 |
:Friez, Michael:: |
7 |
c.710delG |
p.Gly237fs |
Female |
Neither parent has variation |
Rett syndrome-Not certain |
1871 |
:Bunyan, D.:: |
8 |
c.710delG |
p.Gly237fs |
Female |
|
Rett syndrome-Classical |
2093 |
:Cardiff, UK:: |
9 |
c.710delG |
p.Gly237fs |
Female |
de novo |
Rett syndrome-not certain |
3597 |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
10 |
c.710delG |
p.Gly237fs |
Female |
NK |
Rett syndrome-not certain |
4070 |
Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
11 |
c.710delG |
p.Gly237fs |
Female |
|
Rett syndrome-classical |
4182 |
MECP2 mutation in one of Rett's original patients:Fleilinger, M., Berndt, A., Haas, O.A.:Journal of Medicat Genetics: 19724012 |
12 |
c.710delG |
p.Gly237fs |
Female |
|
Rett syndrome-not certain |
4706 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |
13 |
c.710delG |
p.Gly237fs |
Female |
|
Rett syndrome-classical |
6632 |
::: |