|
Variant ID: 79 |
cDNA Change | c.910G>A |
|---|---|---|
| Amino Acid Change | p.Ala304Thr (Legacy AA No. 244) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GCG > ACG | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 8.4E-6 |
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 | |||||||
| 326 | 3 | Heterozygous | 3 | 13 | asymptomatic | Millar et al 2000 | |||
| 635 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 636 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 637 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 638 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 639 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 640 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 641 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 642 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 643 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 644 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 645 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 646 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 647 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 648 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 649 | 1 | Heterozygous | 30_<50 | UK | Mild | Herrmann et al 2009 | |||
| 650 | 1 | Heterozygous | 20_<30 | UK | Mild | Herrmann et al 2009 | |||
| 724 | 1 | Heterozygous | 34 | 34 | UK | Asymptomatic | Fromovich-Amit et al 2004 | ||