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Case ID: 695 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 46 | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Mota 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 | |||||||||||
| 173 | 6 | 0.0001092 | Heterozygous | Point | Missense | Exon 3 | c.244T>C | 82 | 22 | p.Cys82Arg | Gla | |
| 205 | 1 | Heterozygous | Point | Missense | Exon 8 | c.751G>C | 251 | 191 | p.Ala251Pro | Serine Protease | ||