Variant information



Systematic Name c.153C>G
Protein name p.His51Gln
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.153C>G p.His51Gln missense N-term Unknown Female Not Rett synd. 4393
2 c.153C>G p.His51Gln missense N-term Unknown Female Not Rett synd. 4788