Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1222A>C
p.Thr408Pro (Legacy AA No. 390)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
A>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
2
Allele Number *:
251474
Allele Frequency *:
0.000008