Variant ID: 26 |
cDNA Change | c.291G>C |
---|---|---|
Amino Acid Change | p.Thr97= (Legacy AA No. 37) | |
Type | Point | |
Effect | Frameshift | |
Domain | Gla | |
Sequence Context | ||
Location | Exon( 3) | |
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 | |||||||
296 | 3 | Homozygous | 1 | 19 | severe | Millar et al 2000 |