Variant information



Systematic Name c.1234G>A
Protein name p.Val412Ile
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1234G>A p.Val412Ile Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1143
2 c.1234G>A p.Val412Ile Missense C-term Polymorphism not causing disease Male Not Known 2147
3 c.1234G>A p.Val412Ile Missense C-term Polymorphism not causing disease Female Not Rett synd. 2148
4 c.1234G>A p.Val412Ile missense C-term Polymorphism not causing disease Unknown Not Rett synd. 5219
5 c.1234G>A p.Val412Ile missense C-term Polymorphism not causing disease Unknown Not Rett synd. 5220