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Case ID: 480 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | ||||
| FX:C% (intrinsic) | ||||
| FX:C% (RVV) | ||||
| FX:C% (unknown method) | 25 | |||
| FX:Ag% | ||||
| Reported Bleeding Severity | Not Reported | |||
| Case Gender | Not Reported | |||
| Comments on Case | Both variants likely to be on same allele | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Pavlova et al 2015 | |||
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 | Type | Effect | Location in gene | Variant (cDNA) | Sequence Context | Amino Acid No | Protein Change | Protein Domain | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS | Legacy | ||||||||||||||
| 139 | 1 | TBA | May be a polymorphism (Pavlova 2015) | Heterozygous | Point | Missense | Exon 8 | c.1107G>T | GAG GAT | 369 | 329 | p.(Glu369Asp) | Serine Protease | ||
| 140 | 1 | TBA | Heterozygous | Point | Nonsense | Exon 8 | c.1108A>T | AAG TAG | 370 | 330 | p.(Lys370*) | Serine Protease | |||