|
Variant ID: 180 |
cDNA Change | c.292_1401del |
|---|---|---|
| Amino Acid Change | ???? (Legacy AA No. 38) | |
| Type | Deletion | |
| Effect | Frameshift | |
| Domain | Gla | |
| Sequence Context | ||
| Location | Exon( 4) | |
| 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 | |||||||
| 682 | 2 | Heterozygous | 30_<50 | UK | Mild | Pavlova et al 2015 | |||