Variant ID: 127 |
cDNA Change | c.27_28delCT |
---|---|---|
Amino Acid Change | p.Cys10Profs*16 (Legacy AA No. -51) | |
Type | Deletion | |
Effect | Frameshift | |
Domain | Signal Peptide | |
Sequence Context | delCT | |
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 | |||||||
338 | 1 | Homozygous | 0 | <0.1 | severe | Peyvandi et al 2000a | Complete absence of circulating FVII. Both parents are heterozygous for the mutation | ||
440 | 1 | Homozygous | 2_<6 | not in the abstract | Mild | Jin et al 2012 |