Variant ID: 96 |
cDNA Change | c.1074G>A |
---|---|---|
Amino Acid Change | p.Met358Ile (Legacy AA No. 298) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | ATG > ATA | |
Location | Exon( 9) | |
Minor Allele Frequency (MAF) | 6.81E-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 | |||||||
62 | 3 | Heterozygous | 50 | mild | Millar et al 2000 | ||||
120 | 3 | Heterozygous | 25 | unknown | Millar et al 2000 | ||||
121 | 7 | Heterozygous | 41 | asymptomatic | Wulff et al 2000 | ||||
122 | 1 | Heterozygous | 60 | unknown | Bernardi et al 1994a | ||||
123 | 1 | Heterozygous | 46 | unknown | Bernardi et al 1994a | ||||
124 | 1 | Heterozygous | 51 | unknown | Bernardi et al 1994a | ||||
125 | 1 | Heterozygous | 61 | unknown | Bernardi et al 1994a | ||||
231 | 1 | Heterozygous | 36 | unknown | Bernardi et al 1994a | ||||
258 | 7 | Heterozygous | 1 | 9 | asymptomatic | Giansily-Blaizot et al 2001 | |||
277 | 6 | Heterozygous | 5 | mild | Giansily-Blaizot et al 2001 | ||||
330 | 1 | Heterozygous | 46 | unknown | Bernardi et al 1994a | ||||
331 | 4 | Homozygous | 6 | 85 | mild | Bernardi et al 1994a | |||
367 | 6 | Heterozygous | 3 | 37 | asymptomatic | Giansily-Blaizot et al 2001 | other mutation unknown | ||
384 | 6 | Homozygous | 5 | 76 | mild | Giansily-Blaizot et al 2001 | |||
418 | 1 | Homozygous | 7 | 136 | Asymptomatic | Borensztajn et al 2005 | |||
454 | 2 | Heterozygous | 3 | UK | Asymptomatic | Sabater-Lleal et al 2003 | |||
509 | 2 | Heterozygous | 41 | UK | Asymptomatic | Herrmann et al 2000 | |||
678 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
679 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
680 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
681 | 1 | Heterozygous | 30_<50 | UK | Mild | Herrmann et al 2009 | |||
802 | 1 | Heterozygous | 26 | UK | Mild | Elmahmoudi et al 2012 |