Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1393T>C
p.Ser465Pro (Legacy AA No. 425)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
1
Allele Number *:
248326
Allele Frequency *:
0.000004
References and Comments:
Liang et al 2013Substitution with Pro increases rigidity and may cause break in FX helix, disrupting FX structure.