Variant information



Systematic Name c.1324A>G
Protein name p.Thr442Ala
Mutation type Missense
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.1324A>G p.Thr442Ala Missense C-term Unknown Female Not Known 2016