Variant information



Systematic Name c.[378-74C>T(;)473C>T]
Protein name "intronic variation, p.Thr158Met"
Mutation type intronic variation, missense
Domain intronic, MBD
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.[378-74C>T(;)473C>T] "intronic variation, p.Thr158Met" intronic variation, missense intronic, MBD Mutation associated with disease Female Rett syndrome-Atypical 4336