Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1654G>C
p.Asp552His (Legacy AA No. 524)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 11
Variant Effect:
Missense
Codon Change:
1654G>C
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Duckers et al 2010epistaxis and gum bleeding age 5; severe bleeding postpartum