Search Results: 1 unique variant retrieved.



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

  c.1120T>C
p.Cys374Arg (Legacy AA No. 356)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Disrupts Cys291-Cys374 disulphide bridge. Saunders et al 2009

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.





Factor XI Variant Database