Case ID: 577 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1 | ||||
FVII:Ag% | UK | |||
Reported Clinical Severity | Severe | |||
Comments | ||||
Reference | Herrmann et al 2009 | 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 | |||||||||||
169 | 1 | Heterozygous | Point | Missense | Exon 3 | c.160G>A | 54 | -6 | p.Val54Ile | Propeptide | ||
209 | 1 | 3.31E-5 | Heterozygous | Point | Intronic | Intron 8 | c.805+1G>A | 0 | 0 | Serine Protease |