Variant ID: 988 |
cDNA Change | c.795_805+26[8] |
---|---|---|
Amino Acid Change | (Legacy AA No. 0) | |
Type | Indel | |
Effect | Intronic | |
Domain | Serine Protease | |
Sequence Context | ||
Location | Exon( 8) | |
Minor Allele Frequency (MAF) | 0 |
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 | |||||||
318 | 4 | Heterozygous | 27 | unknown | Wulff et al 2000 |