Variant information



Systematic Name c.1105delC
Protein name p.His369fs
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.1105delC p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1695
2 c.1105delC p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6670