Variant information



Systematic Name c.463T>A
Protein name p.Phe155Ile
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.463T>A p.Phe155Ile Missense MBD Unknown Unknown Rett syndrome-Not certain 867