Variant information



Systematic Name c.964C>T
Protein name p.Pro322Ser
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>T p.Pro322Ser Missense C-term Unknown Male Not Rett synd. 2529
2 c.964C>T p.Pro322Ser Missense C-term Unknown Female Not Rett synd. 2530