Search Results: 2 unique variants retrieved
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c.1741T>C
p.Cys581Arg (Legacy AA No. 563)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
T>C
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Disrupts Cys553–Cys581 bond. Colakoglu et al 2018 c.1742G>T
p.Cys581Phe (Legacy AA No. 563)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>T
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-