Variant information



Systematic Name c.400T>C
Protein name p.Ser134Pro
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.400T>C p.Ser134Pro missense MBD Unknown Female Rett syndrome-Classical 4247