Variant information



Systematic Name c.1210G>A
Protein name p.Glu404Lys
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.1210G>A p.Glu404Lys missense C-term Unknown Female Rett syndrome-classical 6579