Case ID: 455 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | 7 | |||
Reported Clinical Severity | Severe | |||
Comments | ||||
Reference | Giansily-Blaizot et al 2001 | 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 | |||||||||||
42 | 12 | Heterozygous | Point | Intronic | Intron 5 | c.430+1G>A | GC gt>GC at | 0 | 0 | Splice Junction | ||
55 | 14 | 8.3E-6 | Heterozygous | Point | Missense | Exon 7 | c.583T>C | TGT>CGT | 195 | 135 | p.Cys195Arg | Activation Peptide |