Factor XI Gene (F11)

Variant Database

FXI (2F83) animation with variants
FXI (2F83) animation

  Search Results: 1 unique variant retrieved.



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

  c.518G>A
p.Gly173Glu (Legacy AA No. 155)
Variant Type: 
Point
Domain: 
Apple 2
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
3
Phenotype: 
II
Allele Count *: 
1
Allele Number *: 
250424
Allele Frequency *: 
0.000004

Variant Comments & Reference:

Functional effect; disturbs proposed FXIa binding loop. Alhaq et al 2000, Mitchell et al 2003, O''Connell et al 2005, Saunders et al 2009

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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