Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1832T>G
p.Val611Gly (Legacy AA No. 593)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
T>G
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
1
Allele Number *:
251478
Allele Frequency *:
0.000004