Variant ID: 87 |
cDNA Change | c.1006delG |
---|---|---|
Amino Acid Change | p.Val336Cysfs*30 (Legacy AA No. 276) | |
Type | Deletion | |
Effect | Frameshift | |
Domain | Serine Protease | |
Sequence Context | delG | |
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 | |||||||
357 | 6 | Heterozygous | 2 | 15 | mild | Giansily-Blaizot et al 2001 |