Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3279G>A
p.Trp1093* (Legacy AA No. 1065)
Variant Type: 
Point
Domain: 
d5B
Location: 
Exon 13
Variant Effect: 
Nonsense
Codon Change: 
3279G>A
No. of Patients Reported: 
2
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
1
Allele Number *: 
251182
Allele Frequency *: 
0.000004
References and Comments:
Bernal et al 2021NA