|
Case ID: 81 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 45 | ||||
| FVII:Ag% | 73 | |||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Bernardi et al 1994a | |||
| Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 998(M1M1) | |||
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 |
|||||||||||
| 110 | 2 | Heterozygous | Point | Missense | Exon 9 | c.1204G>A | GGG>AGG | 402 | 342 | p.Gly402Arg | Serine Protease | |
| 990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||