Search Results: 2 unique variants retrieved
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c.1561G>A
p.Gly521Arg (Legacy AA No. 493)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 10
Variant Effect:
Missense
Codon Change:
1561G>A
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Kovacs et al 2009extreme bleeding after surgeries including tonsillectomy at age 9; severe vaginal bleeding during first delivery
c.1562G>A
p.Gly521Glu (Legacy AA No. 493)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 10
Variant Effect:
Missense
Codon Change:
1562G>A
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
thrombosis
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Guzman et al 2015NA