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Case ID: 1110 | ||||
|---|---|---|---|---|
| FXI:C% | 1 | |||
| FXI:Ag% | <1 | |||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Not Reported | |||
| Comments on Case | Abstract only available: eight heterozygous family members mentioned in abstract but no phenotypic or clinical details provided | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Weng et al 2019 | |||
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 | ||||||||||||||||||
| 231 | 2 | TBA | Heterozygous | Point | Nonsense | Exon 10 | c.1033A>T | LRG_583:g.19515A>T | 19515A>T | NG_008051.1:g.19515A>T | AAG TAG | 345 | 327 | p.(Lys345*) | Apple 4 | ||||
| 308 | 11 | 4.95E-5 | TBA | Heterozygous | Deletion | Frameshift | Exon 12 | c.1325delT | LRG_583:g.24695del | 24695del | NG_008051.1:g.24695del | 442 | 424 | p.(Leu442Cysfs*8) | Serine Protease | ||||