|
Variant ID: 78 |
cDNA Change | c.904G>A |
|---|---|---|
| Amino Acid Change | p.Asp302Asn (Legacy AA No. 242) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GAC > AAC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 2.53E-5 |
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 | |||||||
| 239 | 3 | Homozygous | 1 | 9 | severe | Millar et al 2000 | |||
| 321 | 1 | Homozygous | <1 | 9 | severe | Unpublished Submission | |||
| 502 | 2 | Heterozygous | 2 | UK | Severe | Herrmann et al 2000 | |||
| 683 | 2 | Heterozygous | <1 | UK | Severe | Ahmed et al 2005 | |||