Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.752T>C
p.Leu251Pro (Legacy AA No. 211)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Ferrarese et al 2019Variant disrupts native FX structure yet does not fully suppress FX secretion or activity due to conservation of residue hydrophobicity.