Variant ID: 168 |
cDNA Change | c.158dup |
---|---|---|
Amino Acid Change | p.Val54Argfs*53 (Legacy AA No. -6) | |
Type | Duplication | |
Effect | Frameshift | |
Domain | Propeptide | |
Sequence Context | ||
Location | Exon( 3) | |
Minor Allele Frequency (MAF) |
The details of the cases reported with the above variant is as below
Case ID | Other Variants found in case | Genotype | FVII:C (%) | FVII:Ag (%) | Reported Clinical Severity | Reference | Comments | ||
---|---|---|---|---|---|---|---|---|---|
TF-Unknown | TF-Human | TF-Rabbit | |||||||
770 | 2 | Heterozygous | 1,3 | UK | Moderate | Kwon et al 2011 |