Variant information



Systematic Name c.364G>A
Protein name p.Val122Met
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.364G>A p.Val122Met missense MBD Unknown Female Rett syndrome-not certain 3526