Variant information



Systematic Name c.1441G>A
Protein name p.Val481Met
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.1441G>A p.Val481Met Missense C-term Unknown Female Rett syndrome-Not certain 1637
2 c.1441G>A p.Val481Met missense C-term Unknown Female Rett syndrome-classical 4899