|
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 | |||