Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5009T>G
p.Leu1670Arg (Legacy AA No. 1642)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 15
Variant Effect:
Missense
Codon Change:
5009T>G
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
250596
Allele Frequency *:
0.000004
References and Comments:
Delev et al 2009NA