Search Results: 2 unique variants retrieved
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c.319G>C
p.Asp107His (Legacy AA No. 79)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 3
Variant Effect:
Missense
Codon Change:
319G>C
No. of Patients Reported:
3
Phenotype:
NA
Association:
thrombosis
Allele Count *:
19726
Allele Number *:
282020
Allele Frequency *:
0.069945
References and Comments:
Bossone et al 2003NA
c.320A>G
p.Asp107Gly (Legacy AA No. 79)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 3
Variant Effect:
Missense
Codon Change:
320A>G
No. of Patients Reported:
1
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Paraboschi et al 2020Severe FV deficiency (<13% FV:C) but no major bleeding episodes reported