Variant information



Systematic Name c.961A>G
Protein name p.Lys321Glu
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.961A>G p.Lys321Glu missense C-term Unknown Female Rett syndrome-classical 6616