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Case ID: 415 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 30 | ||||
| FVII:Ag% | 16 | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Unpublished Submission | Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||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 | |||||||||||
| 20 | 1 | Heterozygous | Point | Missense | Exon 3 | c.245G>T | TGC>TTC | 82 | 22 | p.Cys82Phe | Gla | |
| 24 | 1 | Heterozygous | Point | Nonsense | Exon 3 | c.256G>T | GAG>TAG | 86 | 26 | p.Glu86* | Gla | |
| 990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
| 994 | 45 | 0.1342 | Heterozygous | Point | Intronic | Intron 8 | c.806-20G>A | 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 |