Variant information



Systematic Name c.291C>A
Protein name p.Asp97Glu
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.291C>A p.Asp97Glu Missense MBD Unknown Unknown Rett syndrome-Not certain 865
2 c.291C>A p.Asp97Glu missense MBD Unknown Female Rett syndrome-not certain 3083