Variant information



Systematic Name c.596C>A
Protein name p.Pro199His
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.596C>A p.Pro199His missense inter-domain region Unknown Female Not Rett synd. 4620