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Case ID: 52 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 24 | 28 | |||
| FVII:Ag% | 26 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Ohiwa et al 1994 | 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 | |||||||||||
| 82 | 2 | 2.52E-5 | Homozygous | Point | Missense | Exon 9 | c.920G>A | CGC>CAC | 307 | 247 | p.Arg307His | Serine Protease |