Search Results: 1 unique variant retrieved.



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

  c.1061T>G
p.Met354Arg (Legacy AA No. 314)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
T>G
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Mota et al 2010
Variant has limited effect of native FX interactions but likely to disrupt FX function due to localisation in catalytic site. Legacy cDNA numbering in paper - unknown origin (c.1064T>G)

Patient Information: Show


Structural Interpretation:

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Factor X Variant Database