Variant information



Systematic Name c.1015T>C
Protein name p.Cys339Arg
Mutation type missense
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1015T>C p.Cys339Arg missense C-term Unknown Female Rett syndrome-not certain 3565