Case ID: 285 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
25 | ||||
FVII:Ag% | 28 | |||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Suto et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 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 | |||||||||||
51 | 4 | 8.5E-6 | Homozygous | Point | Missense | Exon 6 | c.508C>T | CGC>TGC | 170 | 110 | p.Arg170Cys | EGF2 |