Variant information



Systematic Name c.471C>G
Protein name p.Phe157Leu
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.471C>G p.Phe157Leu missense MBD Unknown Female Rett syndrome-classical 3913