Factor XI Gene (F11)

Variant Database

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

  Search Results: 2 unique variants retrieved



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

  c.730C>T
p.Gln244* (Legacy AA No. 226)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
C>T
Variant Effect: 
Nonsense
No. of Patients Reported: 
3
Phenotype: 
U
Allele Count *: 
3
Allele Number *: 
251356
Allele Frequency *: 
0.000012

Variant Comments & Reference:

Okumura et al 2006

Patient Information: Show


Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.




  c.731A>G
p.Gln244Arg (Legacy AA No. 226)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
None
Allele Count *: 
601
Allele Number *: 
282734
Allele Frequency *: 
0.002126

Variant Comments & Reference:

This mutation is seen in compound heterzygosity but FXI:C is consistent with a partial deficiency and is likely a polymorphism. Sun et al 2001, O'Connell et al 2005, Wiewel-Verschueren et al 2017

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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