Variant information



Systematic Name c.964C>G
Protein name p.Pro322Ala
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.964C>G p.Pro322Ala Missense C-term Unknown Female Rett syndrome-Classical 1403
2 c.964C>G p.Pro322Ala Missense C-term Unknown Female Rett syndrome-Not certain 2177
3 c.964C>G p.Pro322Ala missense C-term Unknown Female Rett syndrome-classical 2948
4 c.964C>G p.Pro322Ala missense C-term Unknown Female Rett syndrome-not certain 3163
5 c.964C>G p.Pro322Ala missense C-term Unknown Female Rett syndrome-not certain 3164
6 c.964C>G p.Pro322Ala missense C-term Unknown Female Rett syndrome-classical 3807
7 c.964C>G p.Pro322Ala missense C-term Unknown Female Rett syndrome-classical 4817