|
Case ID: 1152 | ||||
|---|---|---|---|---|
| FXI:C% | 16 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Asymptomatic | |||
| Comments on Case | ||||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Zhang et al 2020 | |||
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 | ||||||||||||||||||
| 151 | 2 | 1.59E-5 | TBA | Heterozygous | Point | Nonsense | Exon 7 | c.682C>T | LRG_583:g.15354C>T | 15354C>T | NG_008051.1:g.15354C>T | CGA TGA | 228 | 210 | p.(Arg228*) | Apple 3 | |||