|
Variant ID: 76 |
cDNA Change | c.847C>T |
|---|---|---|
| Amino Acid Change | p.Arg283Trp (Legacy AA No. 223) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CGG > TGG | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 4.3E-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 | |||||||
| 23 | 4 | Heterozygous | 60 | 58 | unknown | Bernardi et al 1996 | |||
| 96 | 4 | Heterozygous | 78 | 81 | unknown | Bernardi et al 1996 | |||
| 97 | 4 | Heterozygous | 62 | 58 | unknown | Bernardi et al 1996 | |||
| 98 | 4 | Heterozygous | 60 | 50 | unknown | Bernardi et al 1996 | |||
| 99 | 4 | Heterozygous | 44 | 49 | asymptomatic | Bernardi et al 1996 | |||
| 630 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 631 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 632 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 633 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 634 | 1 | Heterozygous | 20_<30 | UK | Mild | Herrmann et al 2009 | |||