Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1394C>G
p.Gln451Glu (Legacy AA No. 433)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
C>G
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-