Variant information


Systematic Name (NM_004992.3) c.1004_1173delinsTTACACAG
Genomic Name (NC_000023.10:) NC_000023.10:g.13296106_153296275delins[CTGTGTAA;NC_000008.10:50305003_50392184inv]
Protein name p.Gly335_Pro391delinsValThrGln
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease


Entries in the proband database


No: Systematic Name Protein name Pathogenicity Gender Carrier results Phenotype Proband id References
1 c.1004_1173delinsTTACACAG p.Gly335_Pro391delinsValThrGln Mutation associated with disease Female de novo mutation, parents are not carriers Rett syndrome-classical 7042 :Beskorovainaya,Tatiana -Moscow ::