|
Variant ID: 57 |
cDNA Change | c.634C>T |
|---|---|---|
| Amino Acid Change | p.Arg212* (Legacy AA No. 152) | |
| Type | Point | |
| Effect | Nonsense | |
| Domain | Activation Peptide | |
| Sequence Context | CGA > TGA | |
| Location | Exon( 7) | |
| Minor Allele Frequency (MAF) | 1.66E-5 |
The details of the cases reported with the above variant is as below
| Case ID | Other Variants found in case | Genotype | FVII:C (%) | FVII:Ag (%) | Reported Clinical Severity | Reference | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| TF-Unknown | TF-Human | TF-Rabbit | |||||||
| 169 | 9 | Heterozygous | 1 | 1 | mild | Wulff et al 2000 | |||
| 490 | 3 | Heterozygous | 1.3 | 0.9 | Mild | Herrmann et al 2000 | |||
| 578 | 3 | Heterozygous | 2 | UK | Severe | Herrmann et al 2009 | |||
| 614 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 615 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 616 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 617 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 618 | 1 | Heterozygous | 30_<50 | UK | Mild | Herrmann et al 2009 | |||
| 619 | 1 | Heterozygous | 30_<50 | UK | Mild | Herrmann et al 2009 | |||
| 807 | 2 | Heterozygous | 4 | 1.1 | Severe | Gomez et al 2004 | |||