Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1265C>T
p.Pro422Leu (Legacy AA No. 382)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
1
Allele Number *:
250736
Allele Frequency *:
0.000004
References and Comments:
Deam et al 2004Variant disrupts FX kinetic folding pathway, altering FX activity and antigen levels.