Search Results: 1 unique variant retrieved.



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

  c.209C>T
p.Pro70Leu (Legacy AA No. 52)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251440
Allele Frequency *: 
0.000004

Variant Comments & Reference:

Unpublished Data From Coagulation factor XI: a database of mutations and polymorphism associated with factor XI deficiency http://www.wienkav.at/kav/factorxi/Faktor_XI_Suche.asp

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database