Variant information



Systematic Name c.1141C>G
Protein name p.Pro381Ala
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.1141C>G p.Pro381Ala missense C-term Polymorphism not causing disease Female Rett syndrome-classical 3012
2 c.1141C>G p.Pro381Ala missense C-term Polymorphism not causing disease Male Not Rett synd. 4050