Variant: rs104894410 

    present in Gene: GJB2
    present in Chromosome: 13
    Position on Chromosome: 20189407
    Alleles of this Variant: C/G;T

rs104894410 in GJB2 gene and Knuckle pads, leuconychia and sensorineural deafness PMID 15952212 2005 G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.

PMID 15482471 2004 Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

rs104894410 in GJB2 gene and Palmoplantar Keratoderma with Deafness PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.