Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4937C>G
p.Pro1646Arg (Legacy AA No. 1618)
Variant Type: 
Point
Domain: 
d5A3
Location: 
Exon 14
Variant Effect: 
Missense
Codon Change: 
4937C>G
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA
References and Comments:
Kanaji et al 2009consanguineous parents; age 55