Case ID: 222 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
41 | ||||
FVII:Ag% | 44 | |||
Reported Clinical Severity | mild | |||
Comments | ||||
Reference | Millar et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) -(C1C1) 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 | |||||||||||
38 | 7 | Heterozygous | Point | Missense | Exon 5 | c.383A>G | TAT>TGT | 128 | 68 | p.Tyr128Cys | EGF1 |