Variant information



Systematic Name c.1114C>T
Protein name p.His372Tyr
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.1114C>T p.His372Tyr missense C-term Unknown Female Not Known 6575