Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2841G>A
p.Trp947* (Legacy AA No. 919)
Variant Type: 
Point
Domain: 
d5B
Location: 
Exon 13
Variant Effect: 
Nonsense
Codon Change: 
2841G>A
No. of Patients Reported: 
1
Phenotype: 
Mild
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA
References and Comments:
Paraboschi et al 2020Severe FV deficiency (<13% FV:C)