Variant information



Systematic Name c.[=/316C>T]
Protein name p.[=/Arg106Trp]
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[=/316C>T] p.[=/Arg106Trp] missense MBD Mutation associated with disease Male Rett syndrome-male variant 4218