Variant information



Systematic Name c.903C>T
Protein name p.Leu301Leu
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.903C>T p.Leu301Leu Silent TRD Silent polymorphism Female Rett syndrome-Classical 1432