Variant information



Systematic Name c.302C>T
Protein name p.Pro101Leu
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.302C>T p.Pro101Leu Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2168