Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5005T>C
p.Ser1669Pro (Legacy AA No. 1641)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 15
Variant Effect:
Missense
Codon Change:
5005T>C
No. of Patients Reported:
1
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
2
Allele Number *:
250562
Allele Frequency *:
0.000008
References and Comments:
Paraboschi et al 2020Severe FV deficiency (<13% FV:C)