Variant ID: 12 |
cDNA Change | c.56T>C |
---|---|---|
Amino Acid Change | p.Leu19Pro (Legacy AA No. -42) | |
Type | Point | |
Effect | Missense | |
Domain | Signal Peptide | |
Sequence Context | CTG > CCG | |
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 | |||||||
214 | 8 | Heterozygous | 11 | asymptomatic | Wulff et al 2000 | ||||
498 | 2 | Heterozygous | 11 | UK | Asymptomatic | Herrmann et al 2000 | |||
753 | 2 | Heterozygous | 12 | UK | Unknown | Rizzotto et al 2006 |