No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.1154_1197del44 |
p.Pro385fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Unknown |
Rett syndrome-Forme fruste |
916 |
2 |
c.1154_1197del44 |
p.Pro385fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2180 |
3 |
c.1154_1197del44 |
p.Pro385fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2829 |
4 |
c.1154_1197del44 |
p.Pro385fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2950 |
5 |
c.1154_1197del44 |
p.Pro385fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3009 |
6 |
c.1154_1197del44 |
p.Pro385fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3508 |