Variant information



Systematic Name c.611C>G
Protein name p.Ser204*
Mutation type nonsense
Domain inter-domain
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1079
2 c.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1726
3 c.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-atypical 1943
4 c.611C>G p.Ser204* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2596
5 c.611C>G p.Ser204* nonsense inter-domain Mutation associated with disease Female Rett syndrome-classical 6586