Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5807T>A
p.Leu1936* (Legacy AA No. 1908)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 20
Variant Effect:
Nonsense
Codon Change:
5807T>A
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Paraboschi et al 2020Severe FV deficiency (<13% FV:C)