Variant ID: 122 |
cDNA Change | c.1272G>C |
---|---|---|
Amino Acid Change | p.Trp424Cys (Legacy AA No. 364) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | TGG > TGC | |
Location | Exon( 9) | |
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 | |||||||
358 | 1 | Homozygous | <1 | 132 | severe | Peyvandi et al 2000b | |||
691 | 2 | Homozygous | <1 | UK | Mild | Jayandharan et al 2007 | |||
734 | 1 | Homozygous | <1 | 132 | Severe | Peyvandi et al 2002 |