Case ID: 452 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
2 | 2 | |||
FVII:Ag% | ||||
Reported Clinical Severity | Mild | |||
Comments | ||||
Reference | Liu et al 2015 | 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 | |||||||||||
62 | 6 | 4.99E-5 | Heterozygous | Point | Intronic | Intron 7 | c.681+1G>T | CAGgt>CAGtt | 0 | 0 | Splice Junction | |
213 | 1 | Heterozygous | Point | Missense | Exon 9 | c.839A>C | 280 | 220 | p.Glu280Ala | Serine Protease |