Variant information



Systematic Name c.[26+22C>G(;)468C>G]
Protein name "intronic variation, p.Asp156Glu"
Mutation type missense
Domain MBD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[26+22C>G(;)468C>G] "intronic variation, p.Asp156Glu" missense MBD Unknown Female Rett syndrome-classical 2811