|
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| 415 | 6 | Heterozygous | 30 | 16 | Mild | Unpublished Submission | Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC | ||