Case ID: 282 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | <1 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Shen et al 2001 | 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 | |||||||||||
10 | 1 | Heterozygous | Deletion | Frameshift | Exon 1 | c.27_28delCT | delTC | 10 | -51 | p.Cys10Profs*16 | Signal Peptide | |
61 | 1 | Heterozygous | Point | Missense | Exon 7 | c.681G>T | CAGgt>CATgt | 227 | 167 | p.Gln227His | Serine Protease | |
996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 |