Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.119G>C
p.Arg40Thr (Legacy AA No. -1)
Variant Type: 
Point
Domain: 
Pre-pro leader
Location: 
Exon 2
Variant Effect: 
Missense
Codon Change: 
G>C
No. of Patients Reported: 
6
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
References and Comments:
Peyvandi et al 2002; Karimi et al 2012Variant interferes with FX cleavage by signal peptidase, resulting in production of dysfunctional FX