Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.647C>T
p.Ala216Val (Legacy AA No. 188)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
647C>T
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
251168
Allele Frequency *:
0.000004
References and Comments:
Delev et al 2009invasive procedure caused bleeding