Variant information



Systematic Name c.1330_1342del13
Protein name p.Ala444fs
Mutation type Frameshift insertion or deletion
Domain C-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.1330_1342del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1711