Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1348G>A
p.Gly450Arg (Legacy AA No. 410)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
1
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
References and Comments:
Mitchell et al 2019Variant likely affects FX catalytic activity without disrupting native structure.