Gene: KCNH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882175
rs730882175
KCNH1
T 0.700 GeneticVariation CLINVAR De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. 26818738

2016
dbSNP: rs730882175
rs730882175
KCNH1
T 0.700 GeneticVariation CLINVAR Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 25915598

2015
dbSNP: rs730882175
rs730882175
KCNH1
T 0.700 GeneticVariation CLINVAR 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 26264464

2015
dbSNP: rs730882175
rs730882175
KCNH1
T 0.700 GeneticVariation CLINVAR Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. 25420144

2015
dbSNP: rs730882175
rs730882175
KCNH1
T 0.700 GeneticVariation CLINVAR Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. 25711872

2015
dbSNP: rs730882175
rs730882175
KCNH1
T 0.700 GeneticVariation CLINVAR Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice. 23424202

2013
dbSNP: rs730882175
rs730882175
KCNH1
T 0.700 GeneticVariation CLINVAR A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome). 18203178

2008
dbSNP: rs730882175
rs730882175
KCNH1
T 0.700 GeneticVariation CLINVAR Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. 9738473

1998