|
Variant ID: 275 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.1214T>A | LRG Change | LRG_583:g.23207T>A | Genomic Change | 23207T>A | Genomic HGVS Change | NG_008051.1:g.23207T>A |
| Amino Acid Change | p.(Leu405Gln) (Legacy AA No. 387) | |
| Domain | Serine Protease | |
| Codon Change | CTG CAG | |
| Location | Exon 11 | |
| 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 |
|---|---|---|---|---|---|---|---|
| 579 | "Severe" defined as injury-related excessive bleeding during surgery or haemorrhage requiring treatment or emergency hospital admission | Heterozygous | 23 | 37 | Severe | Rugeri et al 2010 |