Variant ID: 34 |
cDNA Change | c.358T>C |
---|---|---|
Amino Acid Change | p.Ser120Pro (Legacy AA No. 60) | |
Type | Point | |
Effect | Missense | |
Domain | EGF1 | |
Sequence Context | TCC > CCC | |
Location | Exon( 5) | |
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 | |||||||
220 | 7 | Heterozygous | 2 to 9 | mild | Wulff et al 2000 | ||||
508 | 2 | Heterozygous | 5_<10 | UK | Mild | Herrmann et al 2000 |