Variant information



Systematic Name c.257C>G
Protein name p.Ser86Cys
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.257C>G p.Ser86Cys Missense MBD Unknown Female Rett syndrome-Not certain 1138