No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.1075T>C |
p.Ser359Pro |
Missense |
C-term |
Polymorphism not causing disease |
Male |
Rett syndrome-Male variant |
1388 |
2 |
c.1075T>C |
p.Ser359Pro |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
1389 |
3 |
c.1075T>C |
p.Ser359Pro |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
1390 |
4 |
c.1075T>C |
p.Ser359Pro |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
1391 |
5 |
c.1075T>C |
p.Ser359Pro |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
1392 |
6 |
c.1075T>C |
p.Ser359Pro |
Missense |
C-term |
Polymorphism not causing disease |
Male |
Not Rett synd. |
1393 |
7 |
c.1075T>C |
p.Ser359Pro |
missense |
C-term |
Polymorphism not causing disease |
Female |
Rett syndrome-not certain |
3517 |