Variant information



Systematic Name c.46C>T
Protein name p.Gln16*
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.46C>T p.Gln16* Nonsense N-term Mutation associated with disease Female Not Known 1678
2 c.46C>T p.Gln16* Nonsense N-term Mutation associated with disease Female Not Known 1762