|
Variant ID: 14 |
cDNA Change | c.64+5G>A |
|---|---|---|
| Amino Acid Change | (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | ||
| Sequence Context | ||
| Location | Intron( 1) | |
| 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 | |||||||
| 386 | 1 | Homozygous | 6 | 3 | mild | Peyvandi et al 2000b | |||
| 387 | 7 | Heterozygous | 2 | 62 | mild | Giansily-Blaizot et al 2001 | |||
| 431 | 2 | Heterozygous | 8.2 | 34.1 | Mild | Ding et al 2005 | |||
| 804 | 1 | Heterozygous | 40 | UK | Severe | Elmahmoudi et al 2012 | |||