Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1120C>T
p.Ser374Pro (Legacy AA No. 334)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
14
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Bernardi et al 1994; Bezeaud et al 1995; Marchetti et al 1995; Vianello et al 2001Variant reduces FX activation by FIXa and RVV-X, possibly by hindering FX recognition (FX Marseille).