Variant information



Systematic Name c.383A>C
Protein name p.Gln128Pro
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.383A>C p.Gln128Pro missense MBD Unknown Female Rett syndrome-late regression 2867