Variant information



Systematic Name c.1087A>T
Protein name p.Lys363*
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.1087A>T p.Lys363* Nonsense C-term Mutation associated with disease Female Not Known 1717
2 c.1087A>T p.Lys363* Nonsense C-term Mutation associated with disease Female Rett syndrome-Classical 2106