Variant information



Systematic Name c.[473C>T(;)*14G>A]
Protein name "p.Thr158Met, 3'UTR variation"
Mutation type missense, 3'UTR variation
Domain MBD, 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.[473C>T(;)*14G>A] "p.Thr158Met, 3'UTR variation" missense, 3'UTR variation MBD, 3'UTR Mutation associated with disease Female Rett syndrome-Atypical 4340