Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1633C>T
p.Gln545* (Legacy AA No. 517)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 11
Variant Effect:
Nonsense
Codon Change:
1633C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
FV Deficiency
Allele Count *:
11
Allele Number *:
251304
Allele Frequency *:
0.000044
References and Comments:
Delev et al 2009NA