|
Variant ID: 19 |
cDNA Change | c.235G>C |
|---|---|---|
| Amino Acid Change | p.Glu79Gln (Legacy AA No. 19) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Gla | |
| Sequence Context | GAG > CAG | |
| Location | Exon( 3) | |
| Minor Allele Frequency (MAF) |
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 | |||||||
| 295 | 3 | Heterozygous | 28 | 34 | asymptomatic | Millar et al 2000 | |||