Factor X Variant Database
Variant
ID: 131
Type Point
Effect Missense
cDNA Change c.1085G>A
Amino Acid Change p.(Ser362Asn) (Legacy AA No. 322)
Domain Serine Protease
Sequence Context AGC > AAC
Location Exon 8
Minor Allele Frequency (MAF)
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant Defective secretion and function of recombinant variant (Zhang 2020)

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
621
-
Homozygous 3 23 Mild Male Zhang et al 2020 Frequent spontaneous epistaxis
622
-
Homozygous 2 11 Mild Female Zhang et al 2020 Sister of case 621: frequent spontaneous epistaxis
623
-
Heterozygous 58 52 Asymptomatic Male Zhang et al 2020 Father of cases 621 and 622
624
-
Heterozygous 44 51 Asymptomatic Female Zhang et al 2020 Mother of cases 621 and 622
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
627
-
Heterozygous 32 66 Asymptomatic Female Lu et al 2021
628
-
Heterozygous 59 73 Asymptomatic Male Lu et al 2021
629
-
Heterozygous 66 69 Asymptomatic Female Lu et al 2021