Variant information



Systematic Name c.[964C>G(;)*98dupA]
Protein name p.Pro322Ala
Mutation type missense, 3'UTR variation
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(;)*98dupA] p.Pro322Ala missense, 3'UTR variation C-term Unknown Female Rett syndrome-classical 6346