Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1340C>G
p.Pro447Arg (Legacy AA No. 419)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 9
Variant Effect:
Missense
Codon Change:
1340C>G
No. of Patients Reported:
5
Phenotype:
Moderate
Association:
FV Deficiency
Allele Count *:
3
Allele Number *:
251282
Allele Frequency *:
0.000012
References and Comments:
Borhany et al 2019bruising, haematoma requiring fresh-frozen plasma