Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6257C>A
p.Ser2086* (Legacy AA No. 2058)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 23
Variant Effect:
Nonsense
Codon Change:
6257C>A
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
4
Allele Number *:
251278
Allele Frequency *:
0.000016
References and Comments:
Cutler et al 2010NA