|
Variant ID: 46 |
cDNA Change | c.469G>A |
|---|---|---|
| Amino Acid Change | p.Gly157Ser (Legacy AA No. 97) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | GGC > AGC | |
| Location | Exon( 6) | |
| Minor Allele Frequency (MAF) | 2.61E-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 | |||||||
| 10 | 9 | Heterozygous | 14-40 | asymptomatic | Wulff et al 2000 | ||||
| 11 | 5 | Heterozygous | 27 | 35 | asymptomatic | Bernardi et al 1993 | |||
| 589 | 1 | Heterozygous | 30_<50 | UK | Asymptomatic | Herrmann et al 2009 | |||
| 590 | 1 | Heterozygous | 30_<50 | UK | Moderate | Herrmann et al 2009 | |||
| 591 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||