Variant information



Systematic Name c.36G>C
Protein name p.Lys12Asn
Mutation type missense
Domain N-term
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.36G>C p.Lys12Asn missense N-term Polymorphism not causing disease Female Rett syndrome-not certain 2865
2 c.36G>C p.Lys12Asn missense N-term Polymorphism not causing disease Male Not Rett synd. 4046