Variant information



Systematic Name c.55C>T
Protein name p.Gln19*
Mutation type Nonsense
Domain N-term
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.55C>T p.Gln19* Nonsense N-term Mutation associated with disease Female Rett syndrome-Atypical 1264
2 c.55C>T p.Gln19* nonsense N-term Mutation associated with disease Female Not Known 4469