Factor X Variant Database
Case
ID: 4
FX:C% (extrinsic) 14
FX:C% (intrinsic)
FX:C% (RVV)
FX:C% (unknown method)
FX:Ag% 36
Reported Bleeding Severity Mild
Case Gender Not Reported
Comments on CasePostoperative bleeding; probable compound heterozygote
Functional Analysis
Analysis Type
Reference Reddy et al 1989

The details of the variants found in this case are listed below

Variant ID No. of Cases Minor Allele Frequency Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic Comments on individual Variant Genotype of Variant Heterozygous Allele Type Effect Location in gene Variant (cDNA) Sequence Context Amino Acid No Protein Change Protein Domain
HGVS Legacy
98 1 TBA Heterozygous Deletion Frameshift Exon 7 c.814delC 272 232 p.(Leu272*) Serine Protease
135 1 4.0E-6 TBA FX San Antonio Heterozygous Point Missense Exon 8 c.1096C>T CGC TGC 366 326 p.(Arg366Cys) Serine Protease