Search Results: 2 unique variants retrieved
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c.1721A>G
p.Asp574Gly (Legacy AA No. 556)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
A>G
Variant Effect:
Missense
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Castaman et al 2007 (ISTH Abstract) c.1721A>C
p.Asp574Ala (Legacy AA No. 556)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
A>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-