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Case ID: 219 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Wulff et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 993(G1G1) 999(H1H1) 998(M1M1) 995(P1P1) 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 | |||||||||||
| 30 | 3 | Heterozygous | Point | Intronic | Intron 4 | c.317-1G>A | agAT>aa>AT | 0 | 0 | Splice Junction | ||
| 38 | 7 | Heterozygous | Point | Missense | Exon 5 | c.383A>G | TAT>TGT | 128 | 68 | p.Tyr128Cys | EGF1 | |