|
Variant ID: 23 |
cDNA Change | c.253G>A |
|---|---|---|
| Amino Acid Change | p.Glu85Lys (Legacy AA No. 25) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Gla | |
| Sequence Context | GAG > AAG | |
| 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 | |||||||
| 408 | 6 | Heterozygous | 1.2 | 21 | asymptomatic | Unpublished Submission | |||
| 757 | 2 | Heterozygous | 1,2 | 21 | Unknown | Nagaizumi et al 2002 | |||