Variant information



Systematic Name c.1205C>T
Protein name p.Pro402Leu
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Male Not Rett synd. 1578
2 c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Female Not Rett synd. 1579
3 c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Male Not Rett synd. 1580
4 c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Female Not Rett synd. 1581
5 c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Female Not Rett synd. 1582