Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1012G>A
p.Val338Met (Legacy AA No. 298)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
9
Phenotype:
I
Allele Count *:
2
Allele Number *:
282434
Allele Frequency *:
0.000007
References and Comments:
Millar et al 2000; Ingerslev et al 2007; Girolami et al 2011Variant induces a conformational change to minimise steric clash with bulky Met residue, resulting in misfolding of FX (Stuart Factor).