Variant information



Systematic Name c.547G>C
Protein name p.Gly183Arg
Mutation type missense
Domain inter-domain region
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.547G>C p.Gly183Arg missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 2771
2 c.547G>C p.Gly183Arg missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 3981