|
Case ID: 407 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | McVey et al 1998 | |||
| Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||||
The details of the variants found in this patient are listed below
Variant ID |
No. of Cases |
MAF* |
Genotype |
Type |
Effect |
Location in gene |
Mutation (cDNA) |
Sequence Context |
Amino Acid |
Protein Change |
Domain |
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|
HGVS |
Legacy |
|||||||||||
| 42 | 12 | Homozygous | Point | Intronic | Intron 5 | c.430+1G>A | GC gt>GC at | 0 | 0 | Splice Junction | ||