Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1283C>T
p.Thr428Ile (Legacy AA No. 410)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
C>T
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-