Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
Undefined cDNA (F364L)
p.Phe364Leu (Legacy AA No. 324)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Liang et al 2013Phe364 plays a key role in maintaining FX stability. Thus, variant destabilizes FX and leads to misfolding.