Variant information



Systematic Name c.454C>G
Protein name p.Pro152Ala
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.454C>G p.Pro152Ala missense MBD Mutation associated with disease Female Not Rett synd. 3856
2 c.454C>G p.Pro152Ala missense MBD Mutation associated with disease Male Not Rett synd. 3857