|
Variant ID: 102 |
cDNA Change | c.1109G>T |
|---|---|---|
| Amino Acid Change | p.Cys370Phe (Legacy AA No. 310) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TGC > TTC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 4.25E-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 | |||||||
| 76 | 3 | Homozygous | 1 | 62 | moderate | Millar et al 2000 | |||
| 77 | 3 | Heterozygous | 45 | 75 | moderate | Millar et al 2000 | |||
| 78 | 7 | Heterozygous | 30 | 73 | unknown | Wulff et al 2000 | |||
| 85 | 5 | Heterozygous | 7 | 41 | moderate | Bernardi et al 1994a | |||
| 143 | 4 | Heterozygous | 57 | 96 | unknown | Bernardi et al 1994a | |||
| 177 | 4 | Heterozygous | 53 | 89 | unknown | Bernardi et al 1994a | |||
| 232 | 4 | Homozygous | 4 | 93 | mild | Bernardi et al 1994a | |||
| 258 | 7 | Heterozygous | 1 | 9 | asymptomatic | Giansily-Blaizot et al 2001 | |||
| 259 | 2 | Heterozygous | <1 | 54 | severe | Peyvandi et al 2000b | |||
| 260 | 7 | Heterozygous | <1 | asymptomatic | Giansily-Blaizot et al 2001 | ||||
| 261 | 2 | Heterozygous | <1 | 43 | mild | Peyvandi et al 2000b | |||
| 262 | 6 | Homozygous | <1 | asymptomatic | Giansily-Blaizot et al 2001 | ||||
| 271 | 4 | Heterozygous | 70 | 92 | unknown | Bernardi et al 1994a | |||
| 273 | 1 | Homozygous | <1 | 129 | mild | Peyvandi et al 2000b | |||
| 327 | 2 | Heterozygous | <1 | 43 | mild | Peyvandi et al 2000b | |||
| 332 | 1 | Homozygous | <1 | 80 | mild | Peyvandi et al 2000b | |||
| 333 | 1 | Homozygous | <1 | 104 | mild | Peyvandi et al 2000b | |||
| 396 | 2 | Heterozygous | 7 | 41 | moderate | Marchetti et al 1992 | other allele is not determined | ||
| 399 | 1 | Homozygous | 4 | 93 | mild | Marchetti et al 1992 | |||
| 421 | 1 | Homozygous | 3 | 3 | UK | Moderate | Rodrigues et al 2003 | ||
| 474 | 2 | Heterozygous | 2 | 2 | 57 | Moderate | Borhany et al 2013 | ||
| 484 | 2 | Heterozygous | 3 | 34 | Moderate | Chafa et al 2004 | |||
| 527 | 1 | Homozygous | 6 | UK | Asymptomatic | Herrmann et al 2009 | |||
| 528 | 1 | Homozygous | 6 | UK | Mild | Herrmann et al 2009 | |||
| 529 | 1 | Homozygous | 1 | 73 | Mild | Herrmann et al 2009 | |||
| 701 | 1 | Homozygous | <1 | 36 | Mild | Mota et al 2009 | |||
| 705 | 1 | Homozygous | 3.3 | 23 | Mild | Mota et al 2009 | |||
| 706 | 1 | Homozygous | <1 | 130 | Asymptomatic | Mota et al 2009 | |||
| 709 | 1 | Homozygous | <1 | 63 | Severe | Menegatti et al 2004 | |||
| 712 | 2 | Heterozygous | <1 | 50 | Mild | Tamary et al 2000 | |||
| 718 | 1 | Homozygous | <1 | 83 | Mild | Fromovich-Amit et al 2004 | |||
| 719 | 1 | Homozygous | <1 | 83 | Mild | Fromovich-Amit et al 2004 | |||
| 720 | 1 | Homozygous | <1 | 83 | Asymptomatic | Fromovich-Amit et al 2004 | |||
| 725 | 1 | Heterozygous | 36 | 36 | 68 | Asymptomatic | Fromovich-Amit et al 2004 | ||
| 741 | 2 | Heterozygous | 4 | 95 | Asymptomatic | Etro et al 2003 | |||
| 744 | 1 | Heterozygous | 24 | 102 | Mariani et al 2003 | thrombotic episode | |||
| 800 | 1 | Heterozygous | 14 | 38 | Asymptomatic | Fromovich-Amit et al 2005 | |||