Variant information



Systematic Name c.28G>C
Protein name p.Glu10Gln
Mutation type missense
Domain N-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.28G>C p.Glu10Gln missense N-term Unknown Female Rett syndrome-forme fruste 2866