|
Variant ID: 62 |
cDNA Change | c.681+1G>T |
|---|---|---|
| Amino Acid Change | Splice Junction (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | ||
| Sequence Context | ||
| Location | Intron( 7) | |
| Minor Allele Frequency (MAF) | 4.99E-5 |
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 | |||||||
| 281 | 3 | Heterozygous | 45 | mild | Millar et al 2000 | ||||
| 315 | 1 | Heterozygous | <1 | 30 | mild | Peyvandi et al 2000b | |||
| 452 | 2 | Heterozygous | 2 | 2 | Mild | Liu et al 2015 | |||
| 562 | 2 | Heterozygous | 3 | UK | Severe | Herrmann et al 2009 | |||
| 754 | 1 | Homozygous | <1 | UK | Severe | Cavallari et al 2012 | |||
| 783 | 2 | Heterozygous | UK | UK | Severe | Ariffin et al 2003 | |||