Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1216G>A
p.Gly406Ser (Legacy AA No. 366)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
14
Phenotype:
II
Allele Count *:
1
Allele Number *:
250966
Allele Frequency *:
0.000004
References and Comments:
Miyata et al 1998; Millar et al 2000; Shen et al 2004; Isshiki et al 2005; Borhany et al 2018Introduction of Ser, a larger hydrophilic residue, may affect substrate-binding and lead to loss of FX activity (FX Nagoya II).