Variant information



Systematic Name c.452A>G
Protein name p.Asp151Gly
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.452A>G p.Asp151Gly missense MBD Unknown Female Rett syndrome-atypical 2958
2 c.452A>G p.Asp151Gly missense MBD Unknown Female Rett syndrome-not certain 3434