Variant information



Systematic Name c.464T>C
Protein name p.Phe155Ser
Mutation type Missense
Domain MBD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.464T>C p.Phe155Ser Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 840
2 c.464T>C p.Phe155Ser Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1032