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Case ID: 19 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 37 | ||||
| FVII:Ag% | 30 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Marchetti 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 | |||||||||||
| 63 | 1 | Heterozygous | Point | Missense | Exon 8 | c.713G>A | TGT>TAT | 238 | 178 | p.Cys238Tyr | Serine Protease | |
| 998 | 116 | 0.1341 | Heterozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |
| 999 | 64 | 0.1419 | Heterozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |