Variant information



Systematic Name c.953A>C
Protein name p.Glu318Ala
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.953A>C p.Glu318Ala Missense C-term Unknown Female Rett syndrome-classical 1707
2 c.953A>C p.Glu318Ala Missense C-term Unknown Female Rett syndrome-atypical 1945