Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
Unspecified (W425L)
p.Trp425Leu (Legacy AA No. 407)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
Variant Effect:
Missense
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Shao et al 2016 c.1275G>C
p.Trp425Cys (Legacy AA No. 407)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
5
Allele Number *:
282812
Allele Frequency *:
0.000018