Variant ID: 120 |
cDNA Change | c.1271_1272del2insTT |
---|---|---|
Amino Acid Change | p.Trp424Phe (Legacy AA No. 364) | |
Type | Indel | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | TGG > TTT | |
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 | |||||||
278 | 1 | Homozygous | 6 | 77 | severe | Peyvandi et al 2000b |