|
Variant ID: 88 |
cDNA Change | c.1009C>T |
|---|---|---|
| Amino Acid Change | p.Arg337Cys (Legacy AA No. 277) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CGC > TGC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 6.74E-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 | |||||||
| 263 | 1 | Homozygous | <1 | <1 | severe | Peyvandi et al 2000b | |||
| 347 | 6 | Heterozygous | 2 | mild | Giansily-Blaizot et al 2001 | ||||
| 437 | 1 | Homozygous | 6 | 7 | Asymptomatic | Wang et al 2011 | |||
| 461 | 2 | Heterozygous | 39 | <5 | 28 | Asymptomatic | Mourey et al 2014 | ||
| 470 | 2 | Heterozygous | 41 | 4 | 32 | Unknown | Mourey et al 2014 | ||
| 517 | 1 | Homozygous | 6 | 12 | Moderate | Herrmann et al 2009 | |||