No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.1163C>T |
p.Pro388Leu |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Forme fruste |
2476 |
::: |
2 |
c.1163C>T |
p.Pro388Leu |
Female |
|
Rett syndrome-classical |
4100 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
3 |
c.1163C>T |
p.Pro388Leu |
Female |
|
Not Rett synd. |
4101 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |