|
Case ID: 470 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 41 | 4 | |||
| FVII:Ag% | 32 | |||
| Reported Clinical Severity | Unknown | |||
| Comments | ||||
| Reference | Mourey et al 2014 | 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 | |||||||||||
| 88 | 6 | 6.74E-5 | Heterozygous | Point | Missense | Exon 9 | c.1009C>T | CGC>TGC | 337 | 277 | p.Arg337Cys | Serine Protease |
| 141 | 7 | 1.69E-5 | Heterozygous | Point | Missense | Exon 9 | c.1010G>A | 337 | 277 | p.Arg337His | Serine Protease | |