In Depth Variant Analysis:  c.1796G>A (p.Cys599Tyr)
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c.1796G>A
p.Cys599Tyr (Legacy AA No. 581)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Disrupts the Cys571-Cys599 bond in the catalytic domain of FXIa. Esteban et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
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