No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.611C>G |
p.Ser204* |
Female |
|
Rett syndrome-Not certain |
1079 |
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.611C>G |
p.Ser204* |
Female |
|
Not Known |
1726 |
:Friez, Michael:: |
3 |
c.611C>G |
p.Ser204* |
Female |
|
Rett syndrome-atypical |
1943 |
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 |
4 |
c.611C>G |
p.Ser204* |
Female |
parents negative |
Rett syndrome-Classical |
2596 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
5 |
c.611C>G |
p.Ser204* |
Female |
|
Rett syndrome-classical |
6586 |
::: |