Variant information



Systematic Name c.911A>G
Protein name p.Lys304Arg
Mutation type missense
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.911A>G p.Lys304Arg missense TRD Unknown Female Not Known 4506