Variant information



Systematic Name c.1075T>C
Protein name p.Ser359Pro
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.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Male Rett syndrome-Male variant 1388
2 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Female Not Rett synd. 1389
3 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Female Not Rett synd. 1390
4 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Female Not Rett synd. 1391
5 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Female Not Rett synd. 1392
6 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Male Not Rett synd. 1393
7 c.1075T>C p.Ser359Pro missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 3517