Variant information



Systematic Name c.515C>T
Protein name p.Pro172Leu
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.515C>T p.Pro172Leu missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 4179
2 c.515C>T p.Pro172Leu missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 4180