|
Variant ID: 56 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.361T>C |
| Amino Acid Change | p.(Cys121Arg) (Legacy AA No. 81) | |
| Domain | EGF1 | |
| Sequence Context | TGT > CGT | |
| Location | Exon 4 | |
| Minor Allele Frequency (MAF) | 8.0E-6 | |
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
TBA | |
| Comments on Variant | Abolishes Cys112-Cys121 disulphide link in EGF1 domain |
For missense variants click
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to view amino-acid sequence comparison.
The details of the cases reported with the above variant are listed below
| Case ID | Other Variants found in case |
Genotype | FX:C (%) extrinsic | FX:C (%) intrinsic | FX:C (%) RVV | FX:C (%) unknown | FX:Ag (%) | Reported Bleeding Severity |
Gender of Case | Published Reference | Comments on Case |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 555 | Heterozygous | 35 | 43 | Asymptomatic | Female | Jin et al 2018 | Also has heterozygous F7 Arg413Gln (paternal) with FVII:C/Ag 42/45% | ||||
| 556 | Heterozygous | 40 | 43 | Asymptomatic | Female | Jin et al 2018 | Mother of case 555 | ||||
| 557 | Heterozygous | 42 | 47 | Asymptomatic | Female | Jin et al 2018 | Daughter of case 555 |