Search Results: 1 unique variant retrieved.



Terms with a '*' next to them are explained on the Help Page .

  c.604A>G
p.Arg202Gly (Legacy AA No. 184)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Transfection experiments of Arg202Gly-FXI show a 70% reduction in FXI activity, suggesting the Arg202Gly mutation might represent a CRM+ defect. Guella et al 2008

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database