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Case ID: 349 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | ||||
| FX:C% (intrinsic) | 65 | |||
| FX:C% (RVV) | ||||
| FX:C% (unknown method) | ||||
| FX:Ag% | ||||
| Reported Bleeding Severity | Asymptomatic | |||
| Case Gender | Male | |||
| Comments on Case | father of case 348 | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Karimi et al 2008 | |||
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 | ||||||||||||||
| 53 | 3 | TBA | Asp103 is post-translationally modified to beta-hydroxyaspartate in WT FX | Heterozygous | Point | Missense | Exon 4 | c.307G>C | GAC CAC | 103 | 63 | p.(Asp103His) | EGF1 | ||