Variant: rs1045933779

present in Gene: SLC26A4 present in Chromosome: 7 Position on Chromosome: 107710150 Alleles of this Variant: T/C

rs1045933779 in SLC26A4 gene and Pendred's syndrome PMID 20146813 2010 High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

PMID 25394566 2015 Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

PMID 23401162 2013 Significance of unilateral enlarged vestibular aqueduct.

PMID 23336812 2013 SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.