Variant information



Systematic Name c.224C>T
Protein name p. Pro75Leu
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.224C>T p. Pro75Leu missense N-term Unknown Female Not Known 4425