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Case ID: 682 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 30_<50 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Pavlova 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 | |||||||||||
| 180 | 1 | Heterozygous | Deletion | Frameshift | Exon 4 | c.292_1401del | 98 | 38 | ???? | Gla | ||
| 201 | 1 | 0.001518 | Heterozygous | Point | Intronic | Intron 1 | c.65-3C>T | 0 | 0 | |||