|
Variant ID: 51 |
cDNA Change | c.508C>T |
|---|---|---|
| Amino Acid Change | p.Arg170Cys (Legacy AA No. 110) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | CGC > TGC | |
| Location | Exon( 6) | |
| Minor Allele Frequency (MAF) | 8.5E-6 |
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 | |||||||
| 283 | 1 | Heterozygous | 62 | 58 | asymptomatic | Suto et al 2000 | |||
| 284 | 1 | Heterozygous | 73 | 79 | asymptomatic | Suto et al 2000 | |||
| 285 | 3 | Homozygous | 25 | 28 | asymptomatic | Suto et al 2000 | |||
| 751 | 2 | Heterozygous | <1 | <1 | Mild | D'Andrea et al 2004 | |||