Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.955T>C
p.Tyr319His (Legacy AA No. 279)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
1
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Mitchell et al 2019Variant likely to disrupt catalytic activity of FX due to localisation within catalytic domain.