|
Case ID: 241 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 17 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Herrmann et al 1997 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 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 | |||||||||||
| 89 | 15 | Homozygous | Point | Missense | Exon 9 | c.1021G>T | GTC>TTC | 341 | 281 | p.Val341Phe | Serine Protease | |