|
Case ID: 1145 | ||||
|---|---|---|---|---|
| FXI:C% | 70 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Asymptomatic | |||
| Comments on Case | Case 1145: also heterozygous for a FGG variant | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Peng 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 | ||||||||||||||||||
| 106 | 8 | 0.000138 | TBA | Suggested CRM +ve phenotype | Heterozygous | Point | Missense | Exon 5 | c.434A>G | LRG_583:g.13261A>G | 13261A>G | NG_008051.1:g.13261A>G | CAC CGC | 145 | 127 | p.(His145Arg) | Apple 2 | ||