Variant ID: 118 |
cDNA Change | c.1256C>T |
---|---|---|
Amino Acid Change | p.Thr419Met (Legacy AA No. 359) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | ACG > ATG | |
Location | Exon( 9) | |
Minor Allele Frequency (MAF) | 1.7E-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 | |||||||
86 | 8 | Heterozygous | 02-Apr | unknown | Wulff et al 2000 | ||||
174 | 6 | Homozygous | 1 | 2 | severe | Giansily-Blaizot et al 2001 | |||
233 | 1 | Homozygous | <1 | <1 | mild | Peyvandi et al 2000b | |||
274 | 4 | Homozygous | <1 | 2 | severe | Unpublished Submission | |||
369 | 3 | Heterozygous | <1 | <1 | severe | Arbini et al 1996 | |||
375 | 3 | Homozygous | <1 | severe | Unpublished Submission | ||||
412 | 3 | Homozygous | 1.6 | 0.8 | 2 | mild | Ozawa et al 1997 | FVII TOYAMA | |
428 | 2 | Heterozygous | UK | UK | Unknown | Chu et al 2002 | |||
429 | 1 | Homozygous | UK | UK | Unknown | Chu et al 2003 | |||
446 | 1 | Homozygous | 1.1 | UK | Moderate | Zhang et al 2013 | |||
447 | 1 | Homozygous | 1.1 | UK | Moderate | Zhang et al 2013 | |||
502 | 2 | Heterozygous | 2 | UK | Severe | Herrmann et al 2000 | |||
514 | 1 | Homozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
574 | 2 | Heterozygous | 7 | UK | Severe | Herrmann et al 2009 | |||
579 | 2 | Heterozygous | 5 | UK | Severe | Herrmann et al 2009 | |||
716 | 1 | Homozygous | 8 | UK | Severe | Fromovich-Amit et al 2004 | |||
762 | 2 | Heterozygous | <3 | <1 | Unknown | Okamoto et al 2009 | |||
788 | 1 | Homozygous | 3 | 3 | UK | Moderate | Salcioglu et al 2012 | ||
791 | 1 | Homozygous | 0_<2 | 0_<2 | UK | Severe | Salcioglu et al 2012 | ||
793 | 1 | Heterozygous | 4 | 4 | UK | Moderate | Salcioglu et al 2012 |