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Case ID: 508 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 5_<10 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Herrmann et al 2000 | 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 | |||||||||||
| 34 | 2 | Heterozygous | Point | Missense | Exon 5 | c.358T>C | TCC>CCC | 120 | 60 | p.Ser120Pro | EGF1 | |
| 73 | 10 | 0.012 | Heterozygous | Point | Intronic | Intron 8 | c.805+7A>G | ggta>ggtg | 0 | 0 | ||