|
Variant ID: 33 |
cDNA Change | c.350A>T |
|---|---|---|
| Amino Acid Change | p.Asn117Ile (Legacy AA No. 57) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF1 | |
| Sequence Context | AAT > ATT | |
| Location | Exon( 5) | |
| 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 | |||||||
| 346 | 5 | Homozygous | <1 | 2 | severe | Giansily-Blaizot et al 2001 | Clinical phenotype: hemophiliac like | ||