No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.302C>G |
p.Pro101Arg |
Female |
No unaffected relatives found to have disease-causing mutations |
Rett syndrome-Not certain |
190 |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 |
2 |
c.302C>G |
p.Pro101Arg |
Female |
|
Not Rett synd. |
1152 |
Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202 |
3 |
c.302C>G |
p.Pro101Arg |
Female |
|
Not Known |
4426 |
:Das, S., Dempsey, M. U. Chicago:: |
4 |
c.302C>G |
p.Pro101Arg |
Female |
|
Rett syndrome-classical |
6598 |
::: |
5 |
c.302C>G |
p.Pro101Arg |
Female |
|
Rett syndrome-classical |
6597 |
::: |