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Case ID: 302 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 10 | 10 | |||
| FVII:Ag% | 52 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Takamiya et al 1993 | 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 | |||||||||||
| 40 | 1 | 8.3E-6 | Heterozygous | Point | Missense | Exon 5 | c.415C>T | CGG>TGG | 139 | 79 | p.Arg139Trp | EGF1 |
| 48 | 1 | 8.7E-6 | Heterozygous | Point | Missense | Exon 6 | c.470G>T | GGC>GTC | 157 | 97 | p.Gly157Val | EGF2 |
| 996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||
| 998 | 116 | 0.1341 | Heterozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |