Variant information



Systematic Name c.1216C>T
Protein name p.Gln406*
Mutation type nonsense
Domain C-term
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.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Male Not Rett synd. 838
2 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Female Not Rett synd. 1542
3 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Male Not Rett synd. 1543
4 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Female Not Rett synd. 1544
5 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Female Not Rett synd. 2490
6 c.1216C>T p.Gln406* nonsense C-term Mutation associated with disease Female Rett syndrome-not certain 4914