|
Variant ID: 212 |
Type | Deletion |
|---|---|---|
| Effect | Frameshift | cDNA Change | c.990delT | LRG Change | LRG_583:g.19384del | Genomic Change | 19384del | Genomic HGVS Change | NG_008051.1:g.19384del |
| Amino Acid Change | p.(Phe330Leufs*19) (Legacy AA No. 313) | |
| Domain | Apple 4 | |
| Codon Change | ||
| 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 | Deletion in "TTTTTT" |
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 |
|---|---|---|---|---|---|---|---|
| 1236 | Variant found in NGS screen | Not Reported | Abuli et al 2016 |