Variant information



Systematic Name c.1101_1396+?del (deletion of exon 4 near stop codon)
Protein name p.His367fs
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.1101_1396+?del (deletion of exon 4 near stop codon) p.His367fs frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2645