Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1303G>A
p.Gly435Ser (Legacy AA No. 395)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Matsuo et al 2017; Togashi et al 2020Variant induces a structural change in the catalytic region, impeding FX secretion and minimising activity.