Variant: rs121912583 

    present in Gene: SLC29A3
    present in Chromosome: 10
    Position on Chromosome: 71362459
    Alleles of this Variant: G/A

rs121912583 in SLC29A3 gene and Histiocytosis with joint contractures and sensorineural deafness PMID 21888995 2012 Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

PMID 20140240 2010 Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

PMID 20619369 2011 Expanding the clinical spectrum of SLC29A3 gene defects.

PMID 20595384 2010 Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.

PMID 18940313 2008 The H syndrome is caused by mutations in the nucleoside transporter hENT3.

PMID 20399510 2010 Early-onset sensorineural hearing loss is a prominent feature of H syndrome.

PMID 19889517 2010 The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

PMID 20199539 2010 H syndrome: novel and recurrent mutations in SLC29A3.

PMID 19336477 2009 SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

PMID 24894595 2015 Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.