Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2404C>T
p.Gln802* (Legacy AA No. 774)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Nonsense
Codon Change:
2404C>T
No. of Patients Reported:
1
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
3
Allele Number *:
282730
Allele Frequency *:
0.000011
References and Comments:
Paraboschi et al 2020Severe FV deficiency (<13% FV:C)