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Case ID: 426 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 0_<2 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Hewitt et al 2005 | 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 | |||||||||||
| 140 | 1 | Heterozygous | Deletion | Frameshift | Exon 1 | c.(?_-1)_(*1_?) | 1 | -60 | large del | Signal Peptide | ||
| 178 | 1 | Heterozygous | Point | Missense | Exon 3 | c.265G>A | 89 | 29 | p.Glu89Lys | Gla | ||