Factor X Variant Database
Variant
ID: 147
Type Point
Effect Nonsense
cDNA Change c.1152C>A
Amino Acid Change p.(Tyr384*) (Legacy AA No. 344)
Domain Serine Protease
Sequence Context TAC > TAA
Location Exon 8
Minor Allele Frequency (MAF) 4.0E-6
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant

For missense variants click here to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below

Case ID Other Variants
found in case
Genotype FX:C (%) intrinsic FX:C (%) extrinsic FX:C (%) RVV FX:C (%) unknown FX:Ag (%) Reported
Bleeding Severity
Gender of Case Published Reference Comments on Case
625
1
Heterozygous 2 51 Moderate Male Lu et al 2021 History of moderate bleeding after trauma: subdural haemorrhage after a fall
626
1
Heterozygous 1 58 Asymptomatic Male Lu et al 2021
630
-
Heterozygous 48 61 Asymptomatic Female Lu et al 2021
631
-
Heterozygous 46 46 Asymptomatic Male Lu et al 2021