Search Results: 1 unique variant retrieved.



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

  c.1118T>C
p.Leu373Ser (Legacy AA No. 355)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
9
Allele Number *: 
282678
Allele Frequency *: 
0.000032

Variant Comments & Reference:

May disrupt a neighbouring disulphide bridge. Saunders et al 2009

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database