Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4357C>T
p.Gln1453* (Legacy AA No. 1425)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Nonsense
Codon Change:
4357C>T
No. of Patients Reported:
1
Phenotype:
Moderate
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Delev et al 2009bleeding after invasive procedures; epistaxis