Variant information



Systematic Name c.317G>T
Protein name p.Arg106Leu
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.317G>T p.Arg106Leu Missense MBD Unknown Female Rett syndrome-Classical 2484