Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.979C>T
p.Arg327Trp (Legacy AA No. 287)
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 *:
7
Allele Number *:
282566
Allele Frequency *:
0.000025
References and Comments:
Cooper et al 1997; Millar et al 2000; Girolami et al 2011Variant changes overall FX electrostatic potential, disrupting FVa binding.