Case ID: 338 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
0 | ||||
FVII:Ag% | <0.1 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Peyvandi et al 2000a | 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 | |||||||||||
127 | 2 | Homozygous | Deletion | Frameshift | Exon 1 | c.27_28delCT | delCT | 10 | -51 | p.Cys10Profs*16 | Signal Peptide |