Variant information



Systematic Name c.358T>G
Protein name p.Tyr120Asp
Mutation type missense
Domain MBD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.358T>G p.Tyr120Asp missense MBD Unknown Female Rett syndrome-not certain 3796