Case ID: 278 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
6 | ||||
FVII:Ag% | 77 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Peyvandi et al 2000b | 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 | |||||||||||
120 | 1 | Homozygous | Indel | Missense | Exon 9 | c.1271_1272del2insTT | TGG>TTT | 424 | 364 | p.Trp424Phe | Serine Protease |