Variant information



Systematic Name c.481G>T
Protein name p.Gly161Trp
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.481G>T p.Gly161Trp Missense MBD Unknown Unknown Rett syndrome-Not certain 231