|
Variant ID: 38 |
cDNA Change | c.383A>G |
|---|---|---|
| Amino Acid Change | p.Tyr128Cys (Legacy AA No. 68) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF1 | |
| Sequence Context | TAT > TGT | |
| Location | Exon( 5) | |
| 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 | |||||||
| 219 | 8 | Heterozygous | 1 | severe | Wulff et al 2000 | ||||
| 222 | 3 | Heterozygous | 41 | 44 | mild | Millar et al 2000 | |||
| 450 | 1 | Homozygous | 0_<2 | UK | Severe | Liu et al 2015 | |||
| 451 | 1 | Homozygous | 0_<2 | UK | Mild | Liu et al 2015 | |||
| 570 | 2 | Heterozygous | 1 | UK | Severe | Herrmann et al 2009 | |||
| 575 | 3 | Heterozygous | 8 | UK | Severe | Herrmann et al 2009 | |||
| 580 | 2 | Heterozygous | 1 | UK | Severe | Herrmann et al 2009 | |||