Variant: rs28931594 

    present in Gene: GJB2
    present in Chromosome: 13
    Position on Chromosome: 20189434
    Alleles of this Variant: C/A;T

rs28931594 in GJB2 gene and ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS PMID 12072059 2002 HID and KID syndromes are associated with the same connexin 26 mutation.

rs28931594 in GJB2 gene and Senter syndrome PMID 11912510 2002 Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

PMID 12548749 2003 De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.

PMID 12752120 2003 We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome.