Variant information



Systematic Name c.1461A>G
Protein name p.*487Trpext*27
Mutation type Nonstop
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1461A>G p.*487Trpext*27 Nonstop C-term Unknown Female Not Known 1700