Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6197G>A
p.Cys2066Tyr (Legacy AA No. 2038)
Variant Type: 
Point
Domain: 
d5C2
Location: 
Exon 23
Variant Effect: 
Missense
Codon Change: 
6197G>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)