Variant information



Systematic Name c.617G>C
Protein name p.Gly206Ala
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.617G>C p.Gly206Ala missense inter-domain region Unknown Male Not Rett synd. 2666