Factor X Variant Database
Variant
ID: 53
Type Point
Effect Missense
cDNA Change c.307G>C
Amino Acid Change p.(Asp103His) (Legacy AA No. 63)
Domain EGF1
Sequence Context GAC > CAC
Location Exon 4
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 Asp103 is post-translationally modified to beta-hydroxyaspartate in WT FX

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
350
-
Heterozygous 54 Mild Female Karimi et al 2008 mother of case 348: prolonged post-delivery bleeding
349
-
Heterozygous 65 Asymptomatic Male Karimi et al 2008 father of case 348
348
-
Homozygous <1 Moderate Female Karimi et al 2008 gum bleeds; haematomas; menorrhagia; post-delivery bleeds; parents first cousins