Variant information



Systematic Name c.377A>T
Protein name p.Asn126Ile
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>T p.Asn126Ile missense MBD Unknown Male Not Rett synd. 6620