Variant information



Systematic Name c.1030C>T
Protein name p.Arg344Trp
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.1030C>T p.Arg344Trp Missense C-term Unknown Male Rett syndrome-Not certain 1532
2 c.1030C>T p.Arg344Trp Missense C-term Unknown Female Not Rett synd. 1533
3 c.1030C>T p.Arg344Trp missense C-term Unknown Female Rett syndrome-atypical 4891