Variant information



Systematic Name c.914A>C
Protein name p.Lys305Thr
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.914A>C p.Lys305Thr missense TRD Unknown Female Rett syndrome-classical 6617