Variant information



Systematic Name c.310T>C
Protein name p.Trp104Arg
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.310T>C p.Trp104Arg missense MBD Unknown Female Rett syndrome-not certain 3514