Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1021C>T
p.Arg341Cys (Legacy AA No. 313)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
1021C>T
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
215
Allele Number *:
282768
Allele Frequency *:
0.00076
References and Comments:
Paraboschi et al 2020Mild FV deficiency (>13% FV:C)