Variant information



Systematic Name c.382C>T
Protein name p.Gln128*
Mutation type nonsense
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.382C>T p.Gln128* nonsense MBD Mutation associated with disease Female Rett syndrome-not certain 3169
2 c.382C>T p.Gln128* nonsense MBD Mutation associated with disease Female Rett syndrome-not certain 4911