|
Variant ID: 148 |
cDNA Change | c.1159_1176del |
|---|---|---|
| Amino Acid Change | p.Met387_Tyr392del (Legacy AA No. 327) | |
| Type | Deletion | |
| 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 | |||||||
| 806 | 1 | Homozygous | 0,4 | 21 | Severe | Gomez et al 2004 | |||