Variant ID: 187 |
cDNA Change | c.431-2A>G |
---|---|---|
Amino Acid Change | (Legacy AA No. 0) | |
Type | Point | |
Effect | Intronic | |
Domain | ||
Sequence Context | ||
Location | Intron( 5) | |
Minor Allele Frequency (MAF) | 1.88E-5 |
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 | |||||||
783 | 2 | Heterozygous | UK | UK | Severe | Ariffin et al 2003 |