Variant information



Systematic Name c.904C>A
Protein name p.Pro302Thr
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>A p.Pro302Thr missense TRD Unknown Female Rett syndrome-classical 3626