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Case ID: 388 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 32 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | Severe | |||
| 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| Reference | Unpublished Submission | Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||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 | |||||||||||
| 17 | 4 | Heterozygous | Point | Missense | Exon 3 | c.218T>A | CTG>CAG | 73 | 13 | p.Leu73Gln | Gla | |
| 39 | 4 | Heterozygous | Point | Missense | Exon 5 | c.413G>A | GGC>GAC | 138 | 78 | p.Gly138Asp | EGF1 | |
| 990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
| 994 | 45 | 0.1342 | Homozygous | Point | Intronic | Intron 8 | c.806-20G>A | 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 |