Factor X Variant Database
Variant
ID: 57
Type Point
Effect Missense
cDNA Change c.362G>A
Amino Acid Change p.(Cys121Tyr) (Legacy AA No. 81)
Domain EGF1
Sequence Context TGT > TAT
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 Abolishes Cys112-Cys121 disulphide link in EGF1

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
158
-
Homozygous 9 12 3 14 Severe Male Peyvandi et al 2002A NB baseline FX:C (PT) <1%; treated 4-6 days before sample collection; chromogenic FX:C 20%; consanguinous parents
157
-
Homozygous 25 30 28 28 Severe Male Peyvandi et al 2002A NB baseline FX:C (PT) <1%; treated 4-6 days before sample collection; chromogenic FX:C 37%; consanguinous parents
457
-
Heterozygous <1 Severe Male Morovvati et al 2015 Case is a double heterozygote: second variant (presumably also dysfunctional) not given in publication; umbilical bleeds at birth; other bleeding episodes
458
-
Homozygous <1 Severe Male Morovvati et al 2015 Consanguineous parents; umbilical bleeds at birth; other bleeding episodes
461
-
Homozygous <1 Severe Male Morovvati et al 2015 Consanguineous parents; umbilical bleeds at birth; CNS bleeding
462
-
Heterozygous <1 Severe Male Morovvati et al 2015 Case is a double heterozygote: second variant (presumably also dysfunctional) not given in publication; ecchymoses; other bleeding episodes
465
-
Homozygous 6 Severe Female Morovvati et al 2015 Consanguineous parents; umbilical bleeds at birth; other bleeding episodes
466
-
Homozygous <1 Severe Female Morovvati et al 2015 Umbilical bleeds at birth; other bleeding episodes