Variant information



Systematic Name c.631-?_657+?dup
Protein name p.?
Mutation type exonic duplication
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.631-?_657+?dup p.? exonic duplication MBD Unknown Female Rett syndrome-preserved speech 3787