|
Variant ID: 20 |
cDNA Change | c.245G>T |
|---|---|---|
| Amino Acid Change | p.Cys82Phe (Legacy AA No. 22) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Gla | |
| Sequence Context | TGC > TTC | |
| Location | Exon( 3) | |
| 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 | |||||||
| 415 | 6 | Heterozygous | 30 | 16 | Mild | Unpublished Submission | Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC | ||