|
Variant ID: 211 |
cDNA Change | c.806_820del |
|---|---|---|
| Amino Acid Change | p.Glu270_Ser274del (Legacy AA No. 210) | |
| Type | Deletion | |
| Effect | Inframe | |
| Domain | Serine Protease | |
| Sequence Context | ||
| Location | Intron( 8) | |
| 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 | |||||||
| 260 | 7 | Heterozygous | <1 | asymptomatic | Giansily-Blaizot et al 2001 | ||||