Variant information



Systematic Name c.904C>T
Protein name p.Pro302Ser
Mutation type missense
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.904C>T p.Pro302Ser missense TRD Unknown Female Rett syndrome-Classical 2615