Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2401C>T
p.Gln801* (Legacy AA No. 773)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Nonsense
Codon Change:
2401C>T
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
2
Allele Number *:
31394
Allele Frequency *:
0.000064
References and Comments:
van Wijk et al 2001Aage 15