Variant information



Systematic Name c.[806delG(;) *8C>T]
Protein name p.Gly269fs
Mutation type frameshift insertion or deletion, 3'UTR variation
Domain TRD-NLS, 3'UTR
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.[806delG(;) *8C>T] p.Gly269fs frameshift insertion or deletion, 3'UTR variation TRD-NLS, 3'UTR Mutation associated with disease Female Rett syndrome-Classical 446