Variant information



Systematic Name c.215C>T
Protein name p.Pro72Leu
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.215C>T p.Pro72Leu Missense N-term Unknown Male Not Known 2139