Variant ID: 148 |
cDNA Change | c.1159_1176del |
---|---|---|
Amino Acid Change | p.Met387_Tyr392del (Legacy AA No. 327) | |
Type | Deletion | |
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 | |||||||
806 | 1 | Homozygous | 0,4 | 21 | Severe | Gomez et al 2004 |