Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1786G>A
p.Gly596Cys (Legacy AA No. 578)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-