Variant ID: 52 |
cDNA Change | c.572-12T>A |
---|---|---|
Amino Acid Change | (Legacy AA No. 0) | |
Type | Point | |
Effect | Intronic | |
Domain | ||
Sequence Context | ||
Location | Intron( 6) | |
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 | |||||||
316 | 3 | Homozygous | low | severe | Millar et al 2000 |