Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1344G>C
p.Lys448Asn (Legacy AA No. 408)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>C
No. of Patients Reported:
10
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Simioni et al 2001Substitution of AA near catalytic site results in reduced FX activity. Yet, variant has no effect on FX synthesis, secretion or stability (FX San Giovanni Rotondo)