|
Variant ID: 27 |
cDNA Change | c.291+1G>A |
|---|---|---|
| Amino Acid Change | Splice Junction (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | ||
| Sequence Context | ||
| Location | Intron( 3) | |
| 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 | |||||||
| 217 | 8 | Heterozygous | 10 | unknown | Wulff et al 2000 | ||||
| 280 | 1 | Homozygous | <1 | <1 | severe | Peyvandi et al 2000b | |||
| 363 | 6 | Heterozygous | <1 | 17 | mild | Giansily-Blaizot et al 2001 | |||