Variant: rs118204456

present in Gene: GRK6;F12;SLC34A1 present in Chromosome: 5 Position on Chromosome: 177404231 Alleles of this Variant: G/C;T

rs118204456 in GRK6;F12;SLC34A1 gene and Angioedemas, Hereditary PMID 19178938 2009 Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.

PMID 25790805 2015 The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women).

PMID 25744496 2015 Characterization of patients with angioedema without wheals: the importance of F12 gene screening.

PMID 20490261 2010 Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene.

PMID 16638441 2006 Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.

PMID 19474702 2009 The aim of this study was to examine elements of the kallikrein-kinin system ('contact system') and the downstream-linked coagulation, complement and fibrinolytic systems in the plasma of six patients with HAE caused by the Thr309Lys mutation and healthy probands.

PMID 17186468 2006 To shed more light on the pathogenic relevance of the HAE type III-associated p.Thr328Lys mutation, we compared FXII activity and plasma levels in patients carrying the mutation with that of healthy control individuals.

PMID 17825897 2007 Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene.