|
Variant ID: 54 |
cDNA Change | c.580C>A |
|---|---|---|
| Amino Acid Change | p.Pro194Thr (Legacy AA No. 134) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Activation Peptide | |
| Sequence Context | CCA > ACA | |
| Location | Exon( 7) | |
| Minor Allele Frequency (MAF) |
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 | |||||||
| 15 | 3 | Heterozygous | 27 | 41 | unknown | Alshinawi et al 1998 | FVII MALTA I | ||
| 16 | 3 | Heterozygous | 46 | 73 | unknown | Alshinawi et al 1998 | FVII MALTA I | ||
| 90 | 4 | Heterozygous | 12 | 14 | asymptomatic | Alshinawi et al 1998 | FVII MALTA I & II | ||
| 513 | 1 | Homozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||