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Case ID: 410 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 23 | ||||
| FVII:Ag% | 24 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Unpublished Submission | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 990(V6/V6) | |
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 |
| 991 | 1 | 0.2041 | Heterozygous | Point | Promoter | 5' Flanking | c.-401G>T | 0 | 0 | |||
| 992 | 1 | 0.2326 | Heterozygous | Point | Promoter | 5' Flanking | c.-402A>G | 0 | 0 | |||
| 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 |
| 999 | 64 | 0.1419 | Heterozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |