Variant information



Systematic Name c.1340C>T
Protein name p.Ala447Val
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.1340C>T p.Ala447Val Missense C-term Unknown Female Rett syndrome-Not certain 1650