Factor X Variant Database
ID: 626
FX:C% (extrinsic)
FX:C% (intrinsic)
FX:C% (unknown method) 1
FX:Ag% 58
Reported Bleeding Severity Asymptomatic
Case Gender Male
Comments on Case
Functional Analysis
Analysis Type
Reference Lu et al 2021

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
131 9 TBA Defective secretion and function of recombinant variant (Zhang 2020) Heterozygous Paternal Point Missense Exon 8 c.1085G>A AGC AAC 362 322 p.(Ser362Asn) Serine Protease
147 4 4.0E-6 TBA Heterozygous Maternal Point Nonsense Exon 8 c.1152C>A TAC TAA 384 344 p.(Tyr384*) Serine Protease