Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5090A>G
p.Asp1697Gly (Legacy AA No. 1669)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 15
Variant Effect:
Missense
Codon Change:
5090A>G
No. of Patients Reported:
2
Phenotype:
Moderate
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Paraboschi et al 2019tooth extractions done under prophylactic treatment, but bleeding still occurred; two pregnancies (no complications)