Case ID: 53 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1.7 | ||||
FVII:Ag% | 1.2 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Millar et al 1992 | 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 | |||||||||||
84 | 1 | Heterozygous | Deletion | Frameshift | Exon 9 | c.961delC | delC | 321 | 261 | p.Leu321Serfs*45 | Serine Protease | |
93 | 1 | Heterozygous | Deletion | Frameshift | Exon 9 | c.1048delC | delC | 350 | 290 | p.Arg350Valfs*16 | Serine Protease |