Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1128G>T
p.Arg376Ser (Legacy AA No. 348)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
1128G>T
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
22
Allele Number *:
282256
Allele Frequency *:
0.000078
References and Comments:
Delev et al 2009NA