|
Variant ID: 126 |
cDNA Change | c.904G>C |
|---|---|---|
| Amino Acid Change | p.Asp302His (Legacy AA No. 242) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GAC > CAC | |
| Location | Exon( 9) | |
| 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 | |||||||
| 86 | 8 | Heterozygous | 02-Apr | unknown | Wulff et al 2000 | ||||
| 246 | 4 | Heterozygous | 4 | 1 | mild | Millar et al 2000 | |||
| 574 | 2 | Heterozygous | 7 | UK | Severe | Herrmann et al 2009 | |||