Variant information



Systematic Name c.909C>G
Protein name p.Ile303Met
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.909C>G p.Ile303Met missense TRD Unknown Female Not Rett synd. 2977
2 c.909C>G p.Ile303Met missense TRD Unknown Female Not Rett synd. 4882