Variant information

Systematic Name c.[584_624del41insTT; 638delTinsCA]
Protein name p.[Gly195_Gln208delinsVal; Leu213Profs*23]
Mutation type frameshift combined insertion and deletion
Domain inter-domain region, TRD
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.[584_624del41insTT; 638delTinsCA] p.[Gly195_Gln208delinsVal; Leu213Profs*23] frameshift combined insertion and deletion inter-domain region, TRD Mutation associated with disease Female Rett syndrome-classical 4933