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Case ID: 458 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | <1 | |||
| FX:C% (intrinsic) | ||||
| FX:C% (RVV) | ||||
| FX:C% (unknown method) | ||||
| FX:Ag% | ||||
| Reported Bleeding Severity | Severe | |||
| Case Gender | Male | |||
| Comments on Case | Consanguineous parents; umbilical bleeds at birth; other bleeding episodes | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Morovvati 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 | ||||||||||||||
| 57 | 8 | TBA | Abolishes Cys112-Cys121 disulphide link in EGF1 | Homozygous | Point | Missense | Exon 4 | c.362G>A | TGT TAT | 121 | 81 | p.(Cys121Tyr) | EGF1 | ||