Variant information



Systematic Name c.1315G>A
Protein name p.Ala439Thr
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1315G>A p.Ala439Thr Missense C-term Unknown Male Not Rett synd. 1574
2 c.1315G>A p.Ala439Thr Missense C-term Unknown Female Not Rett synd. 1587
3 c.1315G>A p.Ala439Thr Missense C-term Unknown Female Not Known 2145
4 c.1315G>A p.Ala439Thr Missense C-term Unknown Female Not Known 2146
5 c.1315G>A p.Ala439Thr Missense C-term Unknown Male Not Rett synd. 2165
6 c.1315G>A p.Ala439Thr Missense C-term Unknown Male Not Rett synd. 2166
7 c.1315G>A p.Ala439Thr missense C-term Unknown Female Not Rett synd. 2777