Variant ID: 101 |
cDNA Change | c.1091G>A |
---|---|---|
Amino Acid Change | p.Arg364Gln (Legacy AA No. 304) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | CGG > CAG | |
Location | Exon( 9) | |
Minor Allele Frequency (MAF) | 0.000519 |
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 | |||||||
40 | 7 | Heterozygous | 5 | asymptomatic | Tamary et al 1996 | ||||
64 | 1 | Homozygous | <1 | 100 | asymptomatic | Takamiya et al 1993 | |||
65 | 4 | Homozygous | 31 | 113 | asymptomatic | Bernardi et al 1996 | |||
66 | 1 | Heterozygous | 72 | 124 | unknown | Bernardi et al 1994a | |||
67 | 1 | Heterozygous | 52 | 83 | unknown | Bernardi et al 1994a | |||
68 | 4 | Homozygous | 16 | 82 | asymptomatic | Bernardi et al 1994a | |||
69 | 4 | Heterozygous | 46 | 75 | unknown | Bernardi et al 1994a | |||
70 | 1 | Homozygous | 18 | 78 | unknown | Bernardi et al 1994a | |||
71 | 1 | Heterozygous | 54 | 85 | unknown | Bernardi et al 1994a | |||
72 | 1 | Heterozygous | 52 | 97 | unknown | Bernardi et al 1994a | |||
73 | 1 | Heterozygous | 61 | 90 | unknown | Bernardi et al 1994a | |||
74 | 1 | Heterozygous | 45 | 84 | unknown | Bernardi et al 1994a | |||
75 | 1 | Heterozygous | 34 | 83 | unknown | Bernardi et al 1994a | |||
126 | 4 | Heterozygous | 44 | 88 | unknown | Bernardi et al 1994a | |||
127 | 4 | Heterozygous | 54 | 73 | unknown | Bernardi et al 1994a | |||
128 | 4 | Heterozygous | 33 | 70 | asymptomatic | Bernardi et al 1994a | |||
129 | 1 | Heterozygous | 47 | 82 | unknown | Bernardi et al 1994a | |||
130 | 6 | Homozygous | 2 | 72 | asymptomatic | Giansily-Blaizot et al 2001 | |||
131 | 7 | Heterozygous | 5 | 44 | asymptomatic | Giansily-Blaizot et al 2001 | |||
132 | 7 | Heterozygous | 5 | 55 | asymptomatic | Giansily-Blaizot et al 2001 | |||
133 | 6 | Homozygous | 5 | asymptomatic | Giansily-Blaizot et al 2001 | ||||
134 | 6 | Heterozygous | 3 | 23 | mild | Giansily-Blaizot et al 2001 | |||
135 | 1 | Homozygous | 37 | 240 | asymptomatic | Peyvandi et al 2000b | |||
136 | 1 | Homozygous | 27 | 224 | mild | Peyvandi et al 2000b | |||
137 | 1 | Homozygous | 24 | 156 | asymptomatic | Peyvandi et al 2000b | |||
138 | 1 | Homozygous | 17 | 106 | asymptomatic | Peyvandi et al 2000b | |||
139 | 1 | Homozygous | 22 | 130 | asymptomatic | Peyvandi et al 2000b | |||
140 | 2 | Heterozygous | 100 (bovine) | 75 | 108 | unknown | Marchetti et al 1992 | ||
266 | 3 | Heterozygous | 100 (bovine) | 40 | 70 | moderate | Marchetti et al 1992 | ||
267 | 2 | Heterozygous | 100 (bovine) | 58 | 74 | unknown | Marchetti et al 1992 | ||
268 | 1 | Heterozygous | 100 (bovine) | 51 | 117 | unknown | Marchetti et al 1992 | ||
269 | 1 | Heterozygous | 20 | 20 | 50 | mild | James et al 1993c | FVII VERONA | |
270 | 2 | Heterozygous | 4 | <1 | 60 | asymptomatic | Kuppuswamy et al 1993 | FVII KANSAS | |
365 | 1 | Homozygous | 14 | 120 | asymptomatic | Sabharwal et al 1992 | FVII RICHMOND; PE & DVT | ||
390 | 1 | Homozygous | 30 | <1 | 104 | asymptomatic | O'Brien et al 1991 | ||
391 | 1 | Homozygous | 100 (bovine) | 9 | 100 | mild | James et al 1993a | FVII PADUA | |
393 | 1 | Homozygous | 124 bovine | 21 | 14 | asymptomatic | Shurafa et al 1993 | FVII DETROIT; DVT | |
400 | 1 | Heterozygous | 16 | 6.7 | 67 | asymptomatic | James et al 1993b | FVII LITTLE ROCK - possibly a compound heterozygote | |
420 | 1 | Heterozygous | 38 | 38 | 70 | Unknown | Rodrigues et al 2003 | ||
422 | 1 | Heterozygous | 40 | 40 | 26 | Unknown | Rodrigues et al 2003 | ||
423 | 1 | Heterozygous | 44 | 44 | 60 | Unknown | Rodrigues et al 2003 | ||
430 | 2 | Heterozygous | UK | UK | Unknown | Ding et al 2003 | |||
462 | 1 | Homozygous | 10 | 86 | Marty et al 2008 | Haemorrhages and Thrombosis | |||
463 | 2 | Heterozygous | 9 | 73 | Marty et al 2008 | Haemorrhages and Thrombosis | |||
468 | 1 | Heterozygous | 3 | 60 | Asymptomatic | Giansily-Blaizot et al 2007 | |||
564 | 2 | Heterozygous | 6 | UK | Severe | Herrmann et al 2009 | |||
714 | 2 | Heterozygous | 7.5 | UK | Mild | Fromovich-Amit et al 2004 | |||
715 | 1 | Homozygous | 7 | 60 | Asymptomatic | Fromovich-Amit et al 2004 | |||
726 | 1 | Heterozygous | 21 | 21 | UK | Asymptomatic | Fromovich-Amit et al 2004 | ||
750 | 2 | Heterozygous | 26 | 67 | Asymptomatic | Furlan Freguia et al 2004 | |||
765 | 1 | Homozygous | 32 | 1.4 | UK | Asymptomatic | Sekiya et al 2012 | ||
794 | 1 | Homozygous | 1 | 80 | Mild | Fromovich-Amit et al 2005 | |||
795 | 1 | Homozygous | 5 | UK | Mild | Fromovich-Amit et al 2005 | |||
803 | 1 | Homozygous | UK | UK | Asymptomatic | Elmahmoudi et al 2012 | |||
809 | 1 | Heterozygous | 35 | 35 | UK | Asymptomatic | Cutler et al 2005 | ||
811 | 1 | Heterozygous | 34 | 34 | UK | Asymptomatic | Cutler et al 2005 | ||
815 | 1 | Heterozygous | 61 | 33 | 57 | Mild | Pollak et al 2006 | ||
816 | 2 | Heterozygous | 54 | 26 | 67 | Asymptomatic | Pollak et al 2006 | ||
817 | 1 | Heterozygous | 69 | 21 | UK | Asymptomatic | Pollak et al 2006 |