Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5789G>A
p.Gly1930Asp (Legacy AA No. 1902)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 20
Variant Effect:
Missense
Codon Change:
5789G>A
No. of Patients Reported:
10
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
4
Allele Number *:
281772
Allele Frequency *:
0.000014
References and Comments:
Bafunno et al 2012recurrent epistaxis