|
Case ID: 110 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <2 | <2 | |||
| FVII:Ag% | 2 | |||
| Reported Clinical Severity | moderate | |||
| Comments | ||||
| Reference | Arbini et al 1994 | |||
| 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 |
|||||||||||
| 94 | 100 | 0.0007488 | Homozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |
| 125 | 59 | Homozygous | Deletion | Frameshift | Exon 9 | c.1391delC | delC | 464 | 404 | p.Pro464Hisfs*32 | Serine Protease | |
| 998 | 116 | 0.1341 | Homozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |