Variant information



Systematic Name c.323T>A
Protein name p.Leu108His
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.323T>A p.Leu108His missense MBD Unknown Female Rett syndrome-Classical 2570