Case ID: 205 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
67 | ||||
FVII:Ag% | 102 | |||
Reported Clinical Severity | unknown | |||
Comments | ||||
Reference | Leonard et al 1998 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 998(M1M1) |
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 | |||||||||||
32 | 4 | Heterozygous | Point | Missense | Exon 5 | c.349A>G | AAT>GAT | 117 | 57 | p.Asn117Asp | EGF1 |