|
Variant ID: 214 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.992C>T | LRG Change | LRG_583:g.19386C>T | Genomic Change | 19386C>T | Genomic HGVS Change | NG_008051.1:g.19386C>T |
| Amino Acid Change | p.(Thr331Ile) (Legacy AA No. 313) | |
| Domain | Apple 4 | |
| Codon Change | ACC ATC | |
| Location | Exon 9 | |
| 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 |
|---|---|---|---|---|---|---|---|
| 483 | Consanguineous parents: moderate haemorrhage after oral surgery | Homozygous | <1 | Moderate | Fard-Esfahani et al 2008 |