|
Variant ID: 179 |
cDNA Change | c.291+1G>C |
|---|---|---|
| Amino Acid Change | (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | Gla | |
| 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 | |||||||
| 510 | 2 | Heterozygous | <10 | UK | Asymptomatic | Herrmann et al 2000 | |||
| 710 | 1 | Homozygous | 1 | UK | Severe | Tamary et al 2000 | |||
| 722 | 1 | Homozygous | 0_<2 | 0_<2 | UK | Severe | Fromovich-Amit et al 2004 | ||