|
Variant ID: 170 |
cDNA Change | c.16delC |
|---|---|---|
| Amino Acid Change | p.Leu6Serfs*41 (Legacy AA No. -55) | |
| Type | Deletion | |
| Effect | Frameshift | |
| Domain | Signal Peptide | |
| Sequence Context | ||
| Location | Exon( 1) | |
| 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 | |||||||
| 685 | 1 | Homozygous | <1 | UK | Moderate | Jayandharan et al 2007 | |||
| 692 | 1 | Homozygous | <1 | UK | Severe | Jayandharan et al 2007 | |||