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Case ID: 187 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2 | ||||
| FVII:Ag% | 6 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Millar et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | -(C1C1) 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 | |||||||||||
| 49 | 56 | 0.0001376 | Heterozygous | Point | Missense | Exon 6 | c.479A>G | CAG>CGG | 160 | 100 | p.Gln160Arg | EGF2 |
| 55 | 14 | 8.3E-6 | Heterozygous | Point | Missense | Exon 7 | c.583T>C | TGT>CGT | 195 | 135 | p.Cys195Arg | Activation Peptide |
| 996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||