Variant: rs1215224419 

    present in Gene: F7
    present in Chromosome: 13
    Position on Chromosome: 113118766
    Alleles of this Variant: A/G

rs1215224419 in F7 gene and Factor VII Deficiency PMID 12472587 2002 Two double heterozygous mutations in the F7 gene show different manifestations.

PMID 11091194 2000 Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.

PMID 7981691 1994 Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro).

PMID 8043443 1994 Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.

PMID 8652821 1996 A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.

PMID 9414278 1998 Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain.

PMID 14717781 2004 A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency.

PMID 19751712 2009 Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India.

PMID 2070047 1991 Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male.

PMID 21206266 2011 Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.

PMID 8242057 1993 Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.

PMID 11129332 2000 Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.

PMID 8364544 1993 A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene.

PMID 18976247 2009 Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

PMID 19432927 2009 Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation.

PMID 8844208 1996 Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.

PMID 8883260 1996 Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews.

PMID 9452082 1998 Two new missense mutations (P134T and A244V) in the coagulation factor VII gene.

PMID 8940045 1996 Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activity.

PMID 9576180 1998 Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.