Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.5764C>T
p.Gln1922* (Legacy AA No. 1894)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 19
Variant Effect:
Nonsense
Codon Change:
5764C>T
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
thrombosis
Allele Count *:
1
Allele Number *:
251064
Allele Frequency *:
0.000004
References and Comments:
Simioni et al 2005VTE
Structural Interpretation:
Structural analysis cannot be performed on this (Point | Nonsense) variant. c.5765A>C
p.Gln1922Pro (Legacy AA No. 1894)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 19
Variant Effect:
Missense
Codon Change:
5765A>C
No. of Patients Reported:
1
Phenotype:
Moderate
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Paraboschi et al 2020Severe FV deficiency (<13% FV:C)