Variant information



Systematic Name c.932C>T
Protein name p.Thr311Met
Mutation type missense
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.932C>T p.Thr311Met Missense C-term Unknown Female Rett syndrome-Not certain 1858
2 c.932C>T p.Thr311Met missense C-term Unknown Female Rett syndrome-classical 2817
3 c.932C>T p.Thr311Met missense C-term Unknown Female Not Rett synd. 4888
4 c.932C>T p.Thr311Met missense C-term Unknown Female Not Rett synd. 4889