Variant information



Systematic Name c.[423C>G];[=]
Protein name p.[Tyr141*];[=]
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.[423C>G];[=] p.[Tyr141*];[=] Nonsense MBD Mutation associated with disease Male Rett syndrome-Male variant 1434