Search Results: 1 unique variant retrieved.



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

  c.1562A>G
p.Tyr521Cys (Legacy AA No. 503)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Su et al 2018

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database