|
Variant ID: 194 |
cDNA Change | c.572-1G>A |
|---|---|---|
| Amino Acid Change | (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | ||
| Sequence Context | ||
| Location | Intron( 6) | |
| Minor Allele Frequency (MAF) | 8.3E-6 |
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 | |||||||
| 434 | 2 | Heterozygous | 4.4 | 38.5 | Moderate | Yu et al 2009 | |||
| 435 | 2 | Heterozygous | 4 | 130 | Mild | Jiang et al 2011 | |||
| 448 | 2 | Heterozygous | UK | UK | UK | Unknown | Li et al 2015 | ||
| 449 | 2 | Heterozygous | 5 | 5 | UK | Mild | Liu et al 2015 | ||
| 768 | 1 | Homozygous | <5 | UK | Severe | Lee et al 2009 | |||
| 772 | 2 | Heterozygous | 2,4 | UK | Severe | Kwon et al 2011 | |||
| 775 | 1 | Homozygous | 1,3 | UK | Mild | Kwon et al 2011 | |||