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Case ID: 452 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2 | 2 | |||
| FVII:Ag% | ||||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Liu et al 2015 | 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 | |||||||||||
| 62 | 6 | 4.99E-5 | Heterozygous | Point | Intronic | Intron 7 | c.681+1G>T | CAGgt>CAGtt | 0 | 0 | Splice Junction | |
| 213 | 1 | Heterozygous | Point | Missense | Exon 9 | c.839A>C | 280 | 220 | p.Glu280Ala | Serine Protease | ||