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Case ID: 328 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 9 | ||||
| FVII:Ag% | 31 | |||
| Reported Clinical Severity | mild | |||
| Comments | ||||
| Reference | Wulff et al 2000 | 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 | |||||||||||
| 83 | 24 | 4.2E-5 | Heterozygous | Point | Missense | Exon 9 | c.934G>A | GTG>ATG | 312 | 252 | p.Val312Met | Serine Protease |
| 94 | 100 | 0.0007488 | Heterozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |
| 993 | 7 | 0.2096 | Homozygous | Point | Intronic | Intron 1 | c.64+9G>A | 0 | 0 | |||
| 995 | 5 | 0.1436 | Homozygous | Point | Promoter | 5' Flanking | c.-122T>C | 0 | 0 | |||
| 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 |