Variant information



Systematic Name c.679C>G
Protein name p.Gln227Glu
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.679C>G p.Gln227Glu missense TRD Unknown Female Not Rett synd. 2660