Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6139C>T
p.Arg2047* (Legacy AA No. 2019)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 22
Variant Effect:
Nonsense
Codon Change:
6139C>T
No. of Patients Reported:
2
Phenotype:
Mild
Association:
FV Deficiency
Allele Count *:
7
Allele Number *:
282438
Allele Frequency *:
0.000025
References and Comments:
Delev et al 2009NA