|
Case ID: 217 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 10 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | unknown | |||
| 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) | |
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 | |||||||||||
| 27 | 3 | Heterozygous | Point | Intronic | Intron 3 | c.291+1G>A | ACGgt>ACGct | 0 | 0 | Splice Junction | ||
| 81 | 6 | 1.68E-5 | Heterozygous | Point | Missense | Exon 9 | c.919C>T | CGC>TGC | 307 | 247 | p.Arg307Cys | Serine Protease |
| 990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||