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Case ID: 369 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | <1 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Arbini et al 1996 | 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 | |||||||||||
| 42 | 12 | Heterozygous | Point | Intronic | Intron 5 | c.430+1G>A | GC gt>GC at | 0 | 0 | Splice Junction | ||
| 118 | 20 | 1.7E-5 | Heterozygous | Point | Missense | Exon 9 | c.1256C>T | ACG>ATG | 419 | 359 | p.Thr419Met | Serine Protease |
| 998 | 116 | 0.1341 | Heterozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |