|
Variant ID: 114 |
cDNA Change | c.1223A>G |
|---|---|---|
| Amino Acid Change | p.His408Arg (Legacy AA No. 348) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CAT > CGT | |
| 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 | |||||||
| 209 | 2 | Heterozygous | <1? | <3 | mild | Tidd et al 1999 | |||
| 210 | 1 | Homozygous | <1? | 43 | mild | Tidd et al 1999 | |||
| 211 | 2 | Heterozygous | <1? | <3 | mild | Tidd et al 1999 | |||
| 477 | 1 | Homozygous | 2 | 5 | Moderate | Borhany et al 2013 | |||
| 683 | 2 | Heterozygous | <1 | UK | Severe | Ahmed et al 2005 | |||
| 707 | 1 | Homozygous | <1 | 5.5 | Moderate | Mota et al 2009 | |||