|
Variant ID: 309 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.1326G>C | LRG Change | LRG_583:g.24696G>C | Genomic Change | 24696G>C | Genomic HGVS Change | NG_008051.1:g.24696G>C |
| Amino Acid Change | p.(Leu442Phe) (Legacy AA No. 424) | |
| Domain | Serine Protease | |
| Codon Change | TTG TTC | |
| Location | Exon 12 | |
| Minor Allele Frequency (MAF) | ||
Pathogenicity (ACMG) 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 |
|---|---|---|---|---|---|---|---|
| 684 | Case 684: recurrent spontaneous epistaxis | Heterozygous | 11 | Mild | Kim et al 2013 | ||
| 686 | Father of case 684 | Heterozygous | 49 | Asymptomatic | Kim et al 2013 | ||
| 687 | Sister of case 684 | Heterozygous | 47 | Asymptomatic | Kim et al 2013 |