Case ID: 219 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1 | ||||
FVII:Ag% | ||||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Wulff et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 993(G1G1) 999(H1H1) 998(M1M1) 995(P1P1) 990(V6/V6) |
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 | |||||||||||
30 | 3 | Heterozygous | Point | Intronic | Intron 4 | c.317-1G>A | agAT>aa>AT | 0 | 0 | Splice Junction | ||
38 | 7 | Heterozygous | Point | Missense | Exon 5 | c.383A>G | TAT>TGT | 128 | 68 | p.Tyr128Cys | EGF1 |