|
Variant ID: 41 |
cDNA Change | c.416G>A |
|---|---|---|
| Amino Acid Change | p.Arg139Gln (Legacy AA No. 79) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF1 | |
| Sequence Context | CGG > CAG | |
| Location | Exon( 5) | |
| Minor Allele Frequency (MAF) | 0.0005875 |
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 | |||||||
| 4 | 1 | Homozygous | 20 | 76 | asymptomatic | Takamiya et al 1993 | |||
| 5 | 1 | Homozygous | 115 | unknown | Takamiya et al 1995 | FVII SHINJO | |||
| 6 | 2 | Heterozygous | 66 | 100 | asymptomatic | Chaing et al 1994 | Both Variants in cis | ||
| 89 | 2 | Homozygous | <1 | 100 | severe | Chaing et al 1994 | |||
| 469 | 2 | Heterozygous | 105 | 8 | 85 | Asymptomatic | Mourey et al 2014 | ||
| 471 | 2 | Heterozygous | 80 | 4 | 81 | Asymptomatic | Mourey et al 2014 | ||
| 813 | 2 | Heterozygous | 3 | 4 | UK | Asymptomatic | Bolton-Maggs et al 2007 | ||