Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1085G>A
p.Ser362Asn (Legacy AA No. 322)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
5
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Lu et al 2020Variant likely destabilizes structure of catalytic site, diminishing FX activity and limiting secretion.