Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2772G>A
p.Trp924* (Legacy AA No. 896)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Nonsense
Codon Change:
2772G>A
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
251080
Allele Frequency *:
0.000004
References and Comments:
Cutler et al 2010NA