Variant information



Systematic Name c.913A>G
Protein name p.Lys305Glu
Mutation type missense
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.913A>G p.Lys305Glu missense TRD Unknown Female Rett syndrome-not certain 3559