Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1187T>G
p.Phe396Cys (Legacy AA No. 356)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
T>G
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Deam et al 2004Variant interferes with native disulfide bond formation, disrupting native FX folding. FX catalytic activity unaffected by variant.