Variant information



Systematic Name c.1461A>C
Protein name p.*487Cysext*27
Mutation type Nonstop
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.1461A>C p.*487Cysext*27 Nonstop C-term Unknown Female Rett syndrome-Classical 942