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Case ID: 485 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 31 | ||||
| FVII:Ag% | 32 | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Qu_lin et al 2008 | 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 | |||||||||||
| 193 | 1 | Heterozygous | Point | Missense | Exon 6 | c.550G>A | 184 | 124 | p.Gly184Arg | EGF2 | ||