Variant: rs730882175 

    present in Gene: KCNH1
    present in Chromosome: 1
    Position on Chromosome: 210804143
    Alleles of this Variant: C/T

rs730882175 in KCNH1 gene and Muscle hypotonia PMID 26818738 2016 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

PMID 9738473 1998 Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.

PMID 25420144 2015 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

PMID 18203178 2008 A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).

PMID 23424202 2013 Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.

PMID 25915598 2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

PMID 26264464 2015 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

PMID 25711872 2015 Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

rs730882175 in KCNH1 gene and Overgrowth PMID 25915598 2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

PMID 25420144 2015 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

PMID 25711872 2015 Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

PMID 18203178 2008 A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).

PMID 23424202 2013 Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.

PMID 26818738 2016 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

PMID 9738473 1998 Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.

PMID 26264464 2015 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.