Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1012A>T
p.Lys338* (Legacy AA No. 310)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 7
Variant Effect:
Nonsense
Codon Change:
1012A>T
No. of Patients Reported:
3
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
251380
Allele Frequency *:
0.000004
References and Comments:
van Wijk et al 2001ANA