|
Variant ID: 42 |
cDNA Change | c.430+1G>A |
|---|---|---|
| Amino Acid Change | Splice Junction (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | ||
| Sequence Context | ||
| Location | Intron( 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 | |||||||
| 7 | 4 | Heterozygous | 3 | asymptomatic | Millar et al 2000 | ||||
| 8 | 7 | Homozygous | 05-Jul | unknown | Wulff et al 2000 | ||||
| 329 | 6 | Heterozygous | <1 | 6 | mild | Unpublished Submission | |||
| 369 | 3 | Heterozygous | <1 | <1 | severe | Arbini et al 1996 | |||
| 370 | 6 | Heterozygous | 2 | 7 | severe | Giansily-Blaizot et al 2001 | |||
| 407 | 1 | Homozygous | <1 | severe | McVey et al 1998 | ||||
| 455 | 2 | Heterozygous | <1 | 7 | Severe | Giansily-Blaizot et al 2001 | |||
| 496 | 1 | Homozygous | <1 | <1 | Severe | Herrmann et al 2000 | |||
| 511 | 1 | Homozygous | 4 | UK | Severe | Hennewig et al 2006 | |||
| 569 | 2 | Heterozygous | 3 | UK | Severe | Herrmann et al 2009 | |||
| 756 | 2 | Heterozygous | <1,5 | <1 | Severe | Takamiya et al 2001 | |||
| 758 | 1 | Heterozygous | 1 | 6 | Moderate | Nagaizumi et al 2002 | |||