Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1775T>C
p.Ile592Thr (Legacy AA No. 574)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
T>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-