|
Variant ID: 32 |
cDNA Change | c.349A>G |
|---|---|---|
| Amino Acid Change | p.Asn117Asp (Legacy AA No. 57) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF1 | |
| Sequence Context | AAT > GAT | |
| 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 | |||||||
| 2 | 2 | Heterozygous | 75 | 96 | unknown | Leonard et al 1998 | |||
| 205 | 2 | Heterozygous | 67 | 102 | unknown | Leonard et al 1998 | |||
| 206 | 2 | Heterozygous | 32 | 51 | unknown | Leonard et al 1998 | FVII HAMILTON | ||
| 207 | 2 | Heterozygous | 57 | 86 | unknown | Leonard et al 1998 | |||