Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.706G>A
p.Val236Met (Legacy AA No. 196)
Variant Type:
Point
Domain:
Serine Protease
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
3
Phenotype:
II
Allele Count *:
2
Allele Number *:
249584
Allele Frequency *:
0.000008
References and Comments:
Shinohara et al 2008Variant may disrupt cleavage of FX activation peptide (at Arg234-Arg235), reducing FX activity (FX Hofu).