Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1489C>T
p.Arg497* (Legacy AA No. 479)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
C>T
Variant Effect:
Nonsense
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
3
Allele Number *:
251402
Allele Frequency *:
0.000012