No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.932C>T |
p.Thr311Met |
Female |
|
Rett syndrome-Not certain |
1858 |
:Bunyan, D.:: |
2 |
c.932C>T |
p.Thr311Met |
Female |
|
Rett syndrome-classical |
2817 |
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 |
3 |
c.932C>T |
p.Thr311Met |
Female |
in mother |
Not Rett synd. |
4888 |
Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 |
4 |
c.932C>T |
p.Thr311Met |
Female |
in daughter with nonspecific mental retardation |
Not Rett synd. |
4889 |
Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 |