Variant information



Systematic Name c.[=/360T>G]
Protein name p.[=/Tyr120*]
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.[=/360T>G] p.[=/Tyr120*] nonsense MBD Mutation associated with disease Male Rett syndrome-atypical 4671