Variant information



Systematic Name c.413T>C
Protein name p.Leu138Ser
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.413T>C p.Leu138Ser missense MBD Unknown Female Rett syndrome-classical 4394