|
Variant ID: 129 |
cDNA Change | c.816_831ins |
|---|---|---|
| Amino Acid Change | p.Leu277_Asp278ins (Legacy AA No. 217) | |
| Type | Insertion | |
| Effect | Inframe | |
| Domain | Serine Protease | |
| Sequence Context | ||
| 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 | |||||||
| 398 | 1 | Homozygous | <1 | 10 | severe | Peyvandi et al 1999 | |||