Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1169G>T
p.Cys390Phe (Legacy AA No. 350)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>T
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
2
Allele Number *:
250742
Allele Frequency *:
0.000008
References and Comments:
Vianello et al 2003; Herrmann et al 2006; Girolami et al 2009; Girolami et al 2018Variant disrupts disulfide bond formation in catalytic region (Cys390-Cys404), altering FX structure and function.