Variant information



Systematic Name c.308G>A
Protein name p.Gly103Asp
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.308G>A p.Gly103Asp missense MBD Unknown Female Rett syndrome-atypical 4395