Variant information



Systematic Name c.277C>T
Protein name p.Pro93Ser
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.277C>T p.Pro93Ser Missense MBD Unknown Female Rett syndrome-Classical 2138