Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1883G>A
p.Gly628Glu (Legacy AA No. 600)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 12
Variant Effect:
Missense
Codon Change:
1883G>A
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 2020subdural hemorrhage, post injury bleeding treated with fresh-frozen plasma