Variant information



Systematic Name c.377A>G
Protein name p.Asn126Ser
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.377A>G p.Asn126Ser missense MBD Unknown Female Not Rett synd. 4094