|
Variant ID: 77 |
cDNA Change | c.849_865del17 |
|---|---|---|
| Amino Acid Change | p.Arg284Hisfs*27 (Legacy AA No. 224) | |
| Type | Deletion | |
| Effect | Frameshift | |
| Domain | Serine Protease | |
| Sequence Context | delGCGGGTGGCGCAGGTCA | |
| 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 | |||||||
| 25 | 5 | Heterozygous | 18 | 38 | unknown | Bernardi et al 1994b | |||
| 100 | 4 | Heterozygous | 67 | 64 | unknown | Bernardi et al 1994b | |||
| 101 | 5 | Heterozygous | 7 | 25 | unknown | Bernardi et al 1994b | |||
| 254 | 4 | Heterozygous | 44 | 40 | unknown | Bernardi et al 1994b | |||
| 313 | 2 | Heterozygous | <1 | <1 | severe | Peyvandi et al 2000b | |||