Variant information



Systematic Name c.229_238del10
Protein name p.Ala77fs
Mutation type Frameshift insertion or deletion
Domain N-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.229_238del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Female Not Known 1713
2 c.229_238del10 p.Ala77fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 6640