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Case ID: 205 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | ||||
| FX:C% (intrinsic) | ||||
| FX:C% (RVV) | ||||
| FX:C% (unknown method) | 75 | |||
| FX:Ag% | 83 | |||
| Reported Bleeding Severity | Not Reported | |||
| Case Gender | Female | |||
| Comments on Case | also has heterozygous FVII C370F 75% FVII:C); father of cases 202 and 203; consanguineous marriage | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Menegatti et al 2004 | |||
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 | ||||||||||||||
| 23 | 4 | TBA | Heterozygous | Point | Missense | Exon 2 | c.128C>G | TCC TGC | 43 | 3 | p.(Ser43Cys) | Gla | |||