|
Variant ID: 173 |
cDNA Change | c.244T>C |
|---|---|---|
| Amino Acid Change | p.Cys82Arg (Legacy AA No. 22) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Gla | |
| Sequence Context | CGC > TGC | |
| Location | Exon( 3) | |
| Minor Allele Frequency (MAF) | 0.0001092 |
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 | |||||||
| 433 | 2 | Heterozygous | 2 | 10 | Mild | Zhidong et al 2007 | |||
| 475 | 1 | Homozygous | 2 | 52 | Severe | Borhany et al 2013 | |||
| 478 | 1 | Homozygous | 2 | 37 | Moderate | Borhany et al 2013 | |||
| 479 | 1 | Homozygous | 2 | UK | Severe | Borhany et al 2013 | |||
| 695 | 2 | Heterozygous | <1 | 46 | Severe | Mota et al 2009 | |||
| 727 | 1 | Heterozygous | 17 | 17 | 36 | Mild | Fromovich-Amit et al 2004 | ||