|
Case ID: 202 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | ||||
| FX:C% (intrinsic) | ||||
| FX:C% (RVV) | ||||
| FX:C% (unknown method) | 10 | |||
| FX:Ag% | 42 | |||
| Reported Bleeding Severity | Severe | |||
| Case Gender | Male | |||
| Comments on Case | also has homozygous FVII C370F (<1% FVII:C) which is likely clinically contributory; severe lifelong bleeding symptoms including muscle haematomas and frequent haemorrhages; consanguineous parents | |||
| 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 | Homozygous | Point | Missense | Exon 2 | c.128C>G | TCC TGC | 43 | 3 | p.(Ser43Cys) | Gla | |||