Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2032A>G
p.Lys678Glu (Legacy AA No. 650)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2032A>G
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
59
Allele Number *:
281632
Allele Frequency *:
0.000209
References and Comments:
Kanaji et al 2009age 76