Variant information



Systematic Name c.[1104C>T; 1107_1327del221]
Protein name p.[His368His;His370fs]
Mutation type Silent, 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.[1104C>T; 1107_1327del221] p.[His368His;His370fs] Silent, frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 423