Variant ID: 129 |
cDNA Change | c.816_831ins |
---|---|---|
Amino Acid Change | p.Leu277_Asp278ins (Legacy AA No. 217) | |
Type | Insertion | |
Effect | Inframe | |
Domain | Serine Protease | |
Sequence Context | ||
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 | |||||||
398 | 1 | Homozygous | <1 | 10 | severe | Peyvandi et al 1999 |