Search Results: 1 unique variant retrieved.



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

  c.964G>A
p.Asp322Asn (Legacy AA No. 282)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
15
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Messier et al 1996; Millar et al 2000; Herrmann et al 2006
Substitution of active site Asp for Asn significantly affects FX catalytic activity (FX Stockton).

Patient Information: Show


Structural Interpretation:

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Factor X Variant Database