Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1247G>A
p.Cys416Tyr (Legacy AA No. 398)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
17
Phenotype: 
I
Allele Count *: 
4
Allele Number *: 
251468
Allele Frequency *: 
0.000016