|
Case ID: 378 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | <1 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Arbini et al 1997 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 998(M1M1) | |
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 | |||||||||||
| 3 | 2 | Homozygous | Point | Promoter | 5' Flanking | c.-61T>G | actttg>acgttg | 0 | 0 | promoter | ||