Variant information



Systematic Name c.908T>G
Protein name p.Ile303Ser
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.908T>G p.Ile303Ser missense TRD Unknown Female Rett syndrome-not certain 3141