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Case ID: 574 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 7 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Herrmann et al 2009 | 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 | |||||||||||
| 118 | 20 | 1.7E-5 | Heterozygous | Point | Missense | Exon 9 | c.1256C>T | ACG>ATG | 419 | 359 | p.Thr419Met | Serine Protease |
| 126 | 3 | Heterozygous | Point | Missense | Exon 9 | c.904G>C | GAC>CAC | 302 | 242 | p.Asp302His | Serine Protease | |