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Case ID: 282 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | <1 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Shen et al 2001 | 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 | |||||||||||
| 10 | 1 | Heterozygous | Deletion | Frameshift | Exon 1 | c.27_28delCT | delTC | 10 | -51 | p.Cys10Profs*16 | Signal Peptide | |
| 61 | 1 | Heterozygous | Point | Missense | Exon 7 | c.681G>T | CAGgt>CATgt | 227 | 167 | p.Gln227His | Serine Protease | |
| 996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||