Variant information



Systematic Name c.508C>T
Protein name p.Gln170*
Mutation type nonsense
Domain inter-domain region
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.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 301
2 c.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1078
3 c.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1320
4 c.508C>T p.Gln170* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3198
5 c.508C>T p.Gln170* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3408
6 c.508C>T p.Gln170* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3478
7 c.508C>T p.Gln170* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3705