Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1199C>T
p.Pro400Leu (Legacy AA No. 382)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
C>T
Variant Effect:
Missense
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
2
Allele Number *:
251476
Allele Frequency *:
0.000008