Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1276C>T
p.Arg426Cys (Legacy AA No. 386)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
2
Allele Number *:
282058
Allele Frequency *:
0.000007
References and Comments:
Vanden Hoek et al 2012Variant impedes FX secretion and inhibits FX intrinsic activation (FX Vancouver). Legacy cDNA numbering in paper - unknown origin (c.28145C>T)