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Case ID: 349 | ||||
|---|---|---|---|---|
| FXI:C% | 1 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Not Reported | |||
| Comments on Case | No clinical description in publication | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Mitchell et al 2006 | |||
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 | ||||||||||||||||||
| 154 | 6 | TBA | Abolition of Apple 3 disulphide link Cys230-Cys236 | Homozygous | Point | Missense | Exon 7 | c.688T>C | LRG_583:g.15360T>C | 15360T>C | NG_008051.1:g.15360T>C | TGC CGC | 230 | 212 | p.(Cys230Arg) | Apple 3 | |||