Variant information



Systematic Name c.523A>T
Protein name p.Lys175*
Mutation type Nonsense
Domain Inter-domain region
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.523A>T p.Lys175* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1679