Factor X Variant Database
Variant
ID: 63
Type Point
Effect Missense
cDNA Change c.424G>A
Amino Acid Change p.(Glu142Lys) (Legacy AA No. 102)
Domain EGF2
Sequence Context GAG > AAG
Location Exon 5
Minor Allele Frequency (MAF) 0.004489
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant FX Vienna 2: recombinant variant shows only minor functional defect (Forberg 2000): not thought pathogenic (Watzke 1990)

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
248
-
Homozygous 36 Moderate Female Herrmann et al 2006 variable symptoms: haematomas; menorrhagia
78
1
Heterozygous 56 68 Not Reported Not Reported Forberg et al 2000 Sibling of case 76
77
1
Homozygous <1 24 Not Reported Female Forberg et al 2000 Sister of case 76
76
1
Homozygous <1 30 18 20 Mild Female Forberg et al 2000 Mild bruising since childhood; no postoperative bleeding
38
1
Heterozygous 26 56 68 66 Asymptomatic Female Marchetti et al 1995 Sister of case 37
37
1
Heterozygous 20 56 54 72 Asymptomatic Male Marchetti et al 1995 Brother of case 38
7
1
Heterozygous 8 Not Reported Male Watzke et al 1990 p.(Glu54Lys) likely cause of deficiency; brother of case 5
6
1
Heterozygous 5 Not Reported Male Watzke et al 1990 p.(Glu54Lys) likely cause of deficiency; brother of case 5
5
1
Heterozygous 5 25 15 20 Mild Female Watzke et al 1990 Mild bruising since childhood; p.(Glu54Lys) likely cause of deficiency
483
-
Heterozygous 50 Asymptomatic Not Reported Pavlova et al 2015
492
-
Heterozygous 53 Not Reported Not Reported Rath et al 2015