|
Case ID: 128 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 33 | ||||
| FVII:Ag% | 70 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Bernardi et al 1994a | |||
| 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 |
|||||||||||
| 101 | 59 | 0.000519 | Heterozygous | Point | Missense | Exon 9 | c.1091G>A | CGG>CAG | 364 | 304 | p.Arg364Gln | Serine Protease |
| 990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
| 996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||
| 998 | 116 | 0.1341 | Heterozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |