Variant ID: 140 |
cDNA Change | c.(?_-1)_(*1_?) |
---|---|---|
Amino Acid Change | large del (Legacy AA No. -60) | |
Type | Deletion | |
Effect | Frameshift | |
Domain | Signal Peptide | |
Sequence Context | ||
Location | Exon( 1) | |
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 | |||||||
426 | 2 | Heterozygous | 0_<2 | UK | Severe | Hewitt et al 2005 |