Variant information



Systematic Name c.467A>C
Protein name p.Asp156Ala
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.467A>C p.Asp156Ala missense MBD Unknown Female Rett syndrome-classical 3625