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Case ID: 1144 | ||||
|---|---|---|---|---|
| FXI:C% | 18 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Asymptomatic | |||
| Comments on Case | Paternal grandfather of case 1145 | |||
| 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 | ||
| 285 | 33 | 8.0E-6 | TBA | Cotransfection studies suggest that variant FXI reduces secretion of WT FXI homodimers: suggested dominant negative effect of variant FXI due to recruitment of WT FXI into defective heterodimers: impaired secretion of variant in transient expression system | Heterozygous | Point | Missense | Exon 11 | c.1253G>T | LRG_583:g.23246G>T | 23246G>T | NG_008051.1:g.23246G>T | GGC GTC | 418 | 400 | p.(Gly418Val) | Serine Protease | ||