|
Variant ID: 75 |
cDNA Change | c.816_831del |
|---|---|---|
| Amino Acid Change | p.Leu273_Asp277del (Legacy AA No. 213) | |
| Type | Deletion | |
| Effect | Inframe | |
| Domain | Serine Protease | |
| Sequence Context | del CTCAGCGAGCACGAC | |
| Location | Exon( 9) | |
| 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 | |||||||
| 245 | 8 | Heterozygous | 4 | unknown | Wulff et al 2000 | ||||