Variant information



Systematic Name c.982C>G
Protein name p.Leu328Val
Mutation type missense
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.982C>G p.Leu328Val missense C-term Unknown Female Rett syndrome-not certain 3166