Variant information



Systematic Name c.469T>A
Protein name p.Phe157Ile
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.469T>A p.Phe157Ile Missense MBD Unknown Female Rett syndrome-Not certain 1622
2 c.469T>A p.Phe157Ile missense MBD Unknown Male Not Rett synd. 2795
3 c.469T>A p.Phe157Ile missense MBD Mutation associated with disease Female Rett syndrome-classical 6342