Variant: rs104894578 

    present in Gene: KCNJ2
    present in Chromosome: 17
    Position on Chromosome: 70175691
    Alleles of this Variant: C/T

rs104894578 in KCNJ2 gene and Andersen Syndrome PMID 12796536 2003 PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

PMID 12163457 2002 Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

PMID 17074643 2006 Andersen-Tawil syndrome: an ever-expanding phenotype?

PMID 17119796 2006 Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.

PMID 17074642 2006 A family with Andersen-Tawil syndrome and dilated cardiomyopathy.

PMID 16571646 2006 Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

PMID 25415519 2014 Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS.

PMID 12909315 2003 Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

PMID 22589293 2012 Phenotype variability in patients carrying KCNJ2 mutations.

PMID 12148092 2002 KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

PMID 17211524 2007 Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

PMID 11371347 2001 Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

PMID 17568571 2007 Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

PMID 17324964 2007 Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

PMID 16217063 2005 Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

PMID 17221872 2007 Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

rs104894578 in KCNJ2 gene and Short QT Syndrome 3 PMID 17119796 2006 Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.

PMID 17211524 2007 Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

PMID 12796536 2003 PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

PMID 12909315 2003 Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

PMID 17568571 2007 Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

PMID 22589293 2012 Phenotype variability in patients carrying KCNJ2 mutations.

PMID 25415519 2014 Andersen-Tawil syndrome with early fixed myopathy.

PMID 16217063 2005 Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

PMID 17221872 2007 Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

PMID 11371347 2001 Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.