Case ID: 476 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
2 | ||||
FVII:Ag% | 1 | |||
Reported Clinical Severity | Moderate | |||
Comments | ||||
Reference | Borhany et al 2013 | 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 | |||||||||||
223 | 2 | 8.4E-6 | Homozygous | Point | Missense | Exon 9 | c.961C>T | 321 | 261 | p.Leu321Phe | Serine Protease |