Factor X Variant Database
Variant
ID: 11
Type Point
Effect Missense
cDNA Change c.34G>C
Amino Acid Change p.(Ala12Pro) (Legacy AA No. -29)
Domain Signal Peptide
Sequence Context GCC > CCC
Location Exon 1
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

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
424
1
Heterozygous 7 5 5 10 Moderate Male Liang et al 2013 Family history of bleeding: chromogenic FX:C 2%; three haemorrhagic episodes: scrotal haematoma; haematuria and intramuscular haematoma
425
-
Heterozygous 56 53 54 55 Asymptomatic Female Liang et al 2013 Granddaughter of case 424