Variant: rs137853969 

    present in Gene: KCNQ4
    present in Chromosome: 1
    Position on Chromosome: 40819899
    Alleles of this Variant: G/C

rs137853969 in KCNQ4 gene and Deafness, Autosomal Dominant 2A PMID 21242547 2011 Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

PMID 10025409 1999 KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

PMID 10571947 1999 Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

PMID 10369879 1999 Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

PMID 10925378 2000 Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.