Case ID: 764 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
14.5 | 14.5 | 12.5 | ||
FVII:Ag% | ||||
Reported Clinical Severity | Unknown | |||
Comments | ||||
Reference | Kogiso et al 2011 | 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 | |||||||||||
185 | 1 | Heterozygous | Point | Missense | Exon 1 | c.35T>C | 12 | -49 | p.Leu12Pro | Signal Peptide | ||
222 | 1 | 8.4E-6 | Heterozygous | Point | Missense | Exon 9 | c.959C>T | 320 | 260 | p.Pro320Leu | Serine Protease |