|
Case ID: 9 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 2 | |||
| Reported Clinical Severity | mild | |||
| Comments | ||||
| Reference | Hunault et al 1999 | 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 | |||||||||||
| 47 | 4 | Homozygous | Point | Missense | Exon 6 | c.469G>T | GGC>TGC | 157 | 97 | p.Gly157Cys | EGF2 | |
| 996 | 80 | 0.23 | Homozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||
| 998 | 116 | 0.1341 | Homozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |
| 999 | 64 | 0.1419 | Homozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |