Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.400G>A
p.Gly134Arg (Legacy AA No. 94)
Variant Type:
Point
Domain:
EGF-2
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
5
Phenotype:
I
Allele Count *:
7
Allele Number *:
282682
Allele Frequency *:
0.000025
References and Comments:
Peyvandi et al 2002; Herrmann et al 2006Substitution of Gly with a charged residue likely disrupts FX structure and secretion.