Factor XI Variant Database
Variant ID:
308
Type Deletion
Effect Frameshift
cDNA Change c.1325delT
LRG Change LRG_583:g.24695del
Genomic Change 24695del
Genomic HGVS Change NG_008051.1:g.24695del
Amino Acid Change p.(Leu442Cysfs*8) (Legacy AA No. 424)
Domain Serine Protease
Codon Change
Location Exon 12
Minor Allele Frequency (MAF) 4.95E-5
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 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
833
-
Homozygous 3 Asymptomatic Shao et al 2016
857
1
Heterozygous 3 Asymptomatic Shao et al 2016
870
1
Heterozygous <1 Asymptomatic Shao et al 2016
1110 Abstract only available: eight heterozygous family members mentioned in abstract but no phenotypic or clinical details provided
1
Heterozygous 1 <1 Not Reported Weng et al 2019
1111 Case 1111
1
Heterozygous 3 9 Asymptomatic Zhou et al 2019
1113 Father of case 1111
-
Heterozygous 60 63 Asymptomatic Zhou et al 2019
1115 Paternal grandfather of case 1111
-
Heterozygous 62 64 Asymptomatic Zhou et al 2019
1121 Eight heterozygous family members genotyped but no phenotypic or clinical details provided
1
Heterozygous <1 <1 Asymptomatic Lin F et al 2020
1124 Case 1124: easy bruising and ecchymoses: menorrhagia and prolonged excessive postpartum bleeding
1
Heterozygous 1 4 Mild Lin HY et al 2020
1127 Son of case 1124
-
Heterozygous 53 55 Asymptomatic Lin HY et al 2020
1138
-
Homozygous <1 Asymptomatic Lin HY et al 2020