|
Variant ID: 197 |
cDNA Change | c.599T>G |
|---|---|---|
| Amino Acid Change | p.Ile200Ser (Legacy AA No. 140) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Activation Peptide | |
| Sequence Context | AGT > ATT | |
| Location | Exon( 7) | |
| Minor Allele Frequency (MAF) | 0.0004889 |
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 | |||||||
| 424 | 1 | Heterozygous | 62 | 62 | 65 | Unknown | Rodrigues et al 2003 | ||