|
Variant ID: 74 |
cDNA Change | c.814G>A |
|---|---|---|
| Amino Acid Change | p.Asp272Asn (Legacy AA No. 212) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GAC > AAC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 4.42E-5 |
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 | |||||||
| 414 | 6 | Heterozygous | 29 | Asymptomatic | Unpublished Submission | other mutation unknown | |||
| 623 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 624 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 625 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 626 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 627 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 628 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 629 | 1 | Heterozygous | >50 | UK | Mild | Herrmann et al 2009 | |||