|
Variant ID: 81 |
cDNA Change | c.919C>T |
|---|---|---|
| Amino Acid Change | p.Arg307Cys (Legacy AA No. 247) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CGC > TGC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 1.68E-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 | |||||||
| 217 | 8 | Heterozygous | 10 | unknown | Wulff et al 2000 | ||||
| 240 | 3 | Homozygous | unknown | Millar et al 2000 | |||||
| 259 | 2 | Heterozygous | <1 | 54 | severe | Peyvandi et al 2000b | |||
| 261 | 2 | Heterozygous | <1 | 43 | mild | Peyvandi et al 2000b | |||
| 327 | 2 | Heterozygous | <1 | 43 | mild | Peyvandi et al 2000b | |||
| 510 | 2 | Heterozygous | <10 | UK | Asymptomatic | Herrmann et al 2000 | |||