Variant information



Systematic Name c.1127C>G
Protein name p.Pro376Arg
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.1127C>G p.Pro376Arg Missense C-term Unknown Female Not Rett synd. 2369