Variant information



Systematic Name c.613G>T
Protein name p.Glu205*
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.613G>T p.Glu205* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 276
2 c.613G>T p.Glu205* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1321