|
Variant ID: 141 |
cDNA Change | c.1010G>A |
|---|---|---|
| Amino Acid Change | p.Arg337His (Legacy AA No. 277) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CAC > CGC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 1.69E-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 | |||||||
| 461 | 2 | Heterozygous | 39 | <5 | 28 | Asymptomatic | Mourey et al 2014 | ||
| 469 | 2 | Heterozygous | 105 | 8 | 85 | Asymptomatic | Mourey et al 2014 | ||
| 470 | 2 | Heterozygous | 41 | 4 | 32 | Unknown | Mourey et al 2014 | ||
| 471 | 2 | Heterozygous | 80 | 4 | 81 | Asymptomatic | Mourey et al 2014 | ||
| 480 | 2 | Heterozygous | 49 | 12 | 42 | Asymptomatic | Mourey et al 2014 | ||
| 713 | 1 | Heterozygous | 25 | 44 | Asymptomatic | Tamary et al 2000 | |||
| 728 | 1 | Heterozygous | 25 | 25 | 44 | Asymptomatic | Fromovich-Amit et al 2004 | ||