Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1652T>C
p.Phe551Ser (Legacy AA No. 523)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 11
Variant Effect: 
Missense
Codon Change: 
1652T>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)