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Case ID: 1236 | ||||
|---|---|---|---|---|
| FXI:C% | ||||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Not Reported | |||
| Comments on Case | Variant found in NGS screen | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Abuli et al 2016 | |||
The details of the variants found in this case are listed below
| Variant ID | No. of Cases | Minor Allele Frequency | Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
Comments on individual Variant | Genotype of Variant | Heterozygous Allele | Common Variant Alleles (Legacy) | Type | Effect | Location in gene | Variant (cDNA) | Variant (LRG) | Variant (Genomic) | Variant (Genomic HGVS) | Codon Change | Amino Acid No | Protein Change | Protein Domain | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS | Legacy | ||||||||||||||||||
| 212 | 1 | TBA | Deletion in "TTTTTT" | Deletion | Frameshift | Exon 9 | c.990delT | LRG_583:g.19384del | 19384del | NG_008051.1:g.19384del | 331 | 313 | p.(Phe330Leufs*19) | Apple 4 | |||||