|
Case ID: 443 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2_<6 | ||||
| FVII:Ag% | not in the abstract | |||
| Reported Clinical Severity | Moderate | |||
| Comments | ||||
| Reference | Jin et al 2012 | 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 | |||||||||||
| 115 | 13 | 2.57E-5 | Heterozygous | Point | Missense | Exon 9 | c.1224T>G | CAT>CAG | 408 | 348 | p.His408Gln | Serine Protease |
| 189 | 2 | Heterozygous | Point | Missense | Exon 6 | c.479A>T | 160 | 100 | p.Gln160Leu | EGF2 | ||