Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1634G>A
p.Cys545Tyr (Legacy AA No. 527)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
1
Allele Number *:
251462
Allele Frequency *:
0.000004