Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.730G>A
p.Gly244Arg (Legacy AA No. 204)
Variant Type:
Point
Domain:
Serine Protease
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
10
Phenotype:
I
Allele Count *:
1
Allele Number *:
31382
Allele Frequency *:
0.000032
References and Comments:
Bereczky et al 2008; Matsuo et al 2017Variant induces structural changes and interferes with FX secretion (FX Debrecen).
c.731G>A
p.Gly244Glu (Legacy AA No. 204)
Variant Type:
Point
Domain:
Serine Protease
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
I
Allele Count *:
1
Allele Number *:
249128
Allele Frequency *:
0.000004
References and Comments:
Watzke et al 1993(FX Vienna).