Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1837T>C
p.Cys613Arg (Legacy AA No. 585)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 12
Variant Effect: 
Missense
Codon Change: 
1837T>C
No. of Patients Reported: 
5
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
2
Allele Number *: 
251116
Allele Frequency *: 
0.000008
References and Comments:
van Wijk et al 2001ANA