|
Variant ID: 152 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.683G>A | LRG Change | LRG_583:g.15355G>A | Genomic Change | 15355G>A | Genomic HGVS Change | NG_008051.1:g.15355G>A |
| Amino Acid Change | p.(Arg228Gln) (Legacy AA No. 210) | |
| Domain | Apple 3 | |
| Codon Change | CGA CAA | |
| Location | Exon 7 | |
| Minor Allele Frequency (MAF) | 2.83E-5 | |
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 |
|---|---|---|---|---|---|---|---|
| 632 | "Bleeder": publication divides cases in "Bleeder" and "Nonbleeder" | Heterozygous | 50 | 56 | See case comments | Gueguen et al 2012B |