Variant ID: 84 |
cDNA Change | c.961delC |
---|---|---|
Amino Acid Change | p.Leu321Serfs*45 (Legacy AA No. 261) | |
Type | Deletion | |
Effect | Frameshift | |
Domain | Serine Protease | |
Sequence Context | delC | |
Location | Exon( 9) | |
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 | |||||||
53 | 2 | Heterozygous | 1.7 | 1.2 | severe | Millar et al 1992 |