Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.5645G>A
p.Trp1882* (Legacy AA No. 1854)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 18
Variant Effect:
Nonsense
Codon Change:
5645G>A
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Delev et al 2009bleeding after invasive procedures
Structural Interpretation:
Structural analysis cannot be performed on this (Point | Nonsense) variant. c.5646G>A
p.Trp1882* (Legacy AA No. 1854)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 18
Variant Effect:
Nonsense
Codon Change:
5646G>A
No. of Patients Reported:
1
Phenotype:
Moderate
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Montefusco et al 2003recurrent epistaxis; bleedings from the oral cavity, postinjection hematomas