Variant information



Systematic Name c.479C>G
Protein name p.Thr160Ser
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.479C>G p.Thr160Ser Missense MBD Unknown Female Not Known 2058
2 c.479C>G p.Thr160Ser missense MBD Unknown Male Not Rett synd. 4796