Variant information



Systematic Name c.[965C>T(;)999G>T]
Protein name p.[Pro322Leu(;)Gly333Gly]
Mutation type Missense, silent
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.[965C>T(;)999G>T] p.[Pro322Leu(;)Gly333Gly] Missense, silent C-term Unknown Female Rett syndrome-Not certain 122