Variant information



Systematic Name c.1288C>T
Protein name p.Pro430Ser
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.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Male Rett syndrome-male variant 4588
2 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4589
3 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Male Not Rett synd. 4590
4 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4591
5 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4592