Variant information



Systematic Name c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del]
Protein name p.Val316fs
Mutation type frameshift insertion or deletion
Domain 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.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3346