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Case ID: 238 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 15 | ||||
| FVII:Ag% | 60 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Wulff et al 2000 | 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 | |||||||||||
| 70 | 6 | 8.3E-6 | Heterozygous | Point | Missense | Exon 8 | c.796G>A | GCG>ACG | 266 | 206 | p.Ala266Thr | Serine Protease |
| 99 | 2 | Heterozygous | Point | Missense | Exon 9 | c.1088C>G | CCC>CGC | 363 | 303 | p.Pro363Arg | Serine Protease | |
| 990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
| 993 | 7 | 0.2096 | Heterozygous | Point | Intronic | Intron 1 | c.64+9G>A | 0 | 0 | |||
| 995 | 5 | 0.1436 | Heterozygous | Point | Promoter | 5' Flanking | c.-122T>C | 0 | 0 | |||
| 996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||
| 999 | 64 | 0.1419 | Heterozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |