Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5683G>C
p.Gly1895Arg (Legacy AA No. 1867)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 18
Variant Effect:
Missense
Codon Change:
5683G>C
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Paraboschi et al 2020Mild FV deficiency (>13% FV:C)