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Case ID: 1139 | ||||
|---|---|---|---|---|
| FXI:C% | 7 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Mild | |||
| Comments on Case | Easy bruising | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Lin HY 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 | ||
| 186 | 42 | 8.13E-5 | TBA | Heterozygous | Point | Nonsense | Exon 8 | c.841C>T | LRG_583:g.19134C>T | 19134C>T | NG_008051.1:g.19134C>T | CAA TAA | 281 | 263 | p.(Gln281*) | Apple 3 | |||