Search Results: 1 unique variant retrieved.



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

  c.1247A>T
p.Gln416Leu (Legacy AA No. 376)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
A>T
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
4
Allele Number *: 
282282
Allele Frequency *: 
0.000014

References and Comments:

Hu et al 2017; Mitchell et al 2019
Variant likely disrupts FX activity without disturbing native structure due to localisation within catalytic domain.

Patient Information: Show


Structural Interpretation:

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Factor X Variant Database