Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5446C>T
p.Pro1816Ser (Legacy AA No. 1788)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 17
Variant Effect:
Missense
Codon Change:
5446C>T
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
290
Allele Number *:
282290
Allele Frequency *:
0.001027
References and Comments:
Delev et al 2009Na