Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5474G>A
p.Trp1825* (Legacy AA No. 1797)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 17
Variant Effect:
Nonsense
Codon Change:
5474G>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
250976
Allele Frequency *:
0.000004
References and Comments:
Paraboschi et al 2020Mild FV deficiency (>13% FV:C)