Variant information



Systematic Name c.535C>T
Protein name p.Pro179Ser
Mutation type missense
Domain inter-domain
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.535C>T p.Pro179Ser missense inter-domain Unknown Female Not Rett synd. 6588