Variant ID: 8 |
cDNA Change | c.3G>C |
---|---|---|
Amino Acid Change | p.Met1Ile (Legacy AA No. -60) | |
Type | Point | |
Effect | Missense | |
Domain | Signal Peptide | |
Sequence Context | ATG > ATC | |
Location | Exon( 1) | |
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 | |||||||
236 | 4 | Heterozygous | 1 | 1 | asymptomatic | Millar et al 2000 |