Factor XI Variant Database
Variant ID:
12
Type Deletion
Effect Large Deletion
cDNA Change delexons1_15
LRG Change
Genomic Change 6174
Genomic HGVS Change
Amino Acid Change (Legacy AA No. 1)
Domain
Codon Change
Location Exon 1-15
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 Whole gene deletion

For missense variants click Main Menu AA Alignments link to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below


Case ID Comments on Case Other Variants
found in case
Genotype FXI:C (%) FXI:Ag (%) Reported Bleeding Severity (based on clinical description, not FXI:C assay) Reference
230 Case 230
-
Heterozygous 32 Not Reported Mitchell et al 2004
231 Apparently unrelated to case 230
-
Heterozygous 32 Not Reported Mitchell et al 2004
271 Case 271
1
Heterozygous <1 1 Asymptomatic Hill et al 2005
273 Parent of case 271
-
Heterozygous 53 Asymptomatic Hill et al 2005
280 Case 280: menorrhagia; easy bruising and postoperative bleeding
-
Heterozygous 30 Mild Hill et al 2005
281 Brother of case 280: easy bruising; bleeding postoperative and post dental extraction
-
Heterozygous 42 Mild Hill et al 2005
282 Brother of case 280: easy bruising; bleeding postoperative and post dental extraction
-
Heterozygous 56 Asymptomatic Hill et al 2005
283 Brother of case 280: easy bruising and postoperative bleeding
-
Heterozygous 37 Mild Hill et al 2005
284 Sister of case 280: easy bruising; menorrhagia; postoperative and postpartum bleeding
-
Heterozygous 39 Mild Hill et al 2005
285 Niece of case 280: bleeding after dental extraction
-
Heterozygous 34 41 Mild Hill et al 2005
286 Daughter of case 280: menorrhagia; bruising and bleeding post dental extraction
-
Heterozygous 39 46 Mild Hill et al 2005
287 Son of case 280:
-
Heterozygous 47 Asymptomatic Hill et al 2005
288 Son of case 280:
-
Heterozygous 65 Asymptomatic Hill et al 2005
166 Conference abstract
-
Not Reported Not Reported Bolton-Maggs et al 2003
165 Conference abstract
-
Not Reported Not Reported Bolton-Maggs et al 2003
470 Previous unspecified bleeding history
1
Heterozygous <2 Not Reported Duncan et al 2008
646 "Bleeder": publication divides cases in "Bleeder" and "Nonbleeder"
-
Heterozygous 44 38 See case comments Gueguen et al 2012B