Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5215G>T
p.Asp1739Tyr (Legacy AA No. 1711)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 16
Variant Effect:
Missense
Codon Change:
5215G>T
No. of Patients Reported:
1
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)