|
Case ID: 254 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 44 | ||||
| FVII:Ag% | 40 | |||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Bernardi et al 1994b | 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 | |||||||||||
| 77 | 5 | Heterozygous | Deletion | Frameshift | Exon 9 | c.849_865del17 | delGCGGGTGGCGCAGGTCA | 284 | 224 | p.Arg284Hisfs*27 | Serine Protease | |
| 990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
| 996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||
| 998 | 116 | 0.1341 | Heterozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |