Variant: rs1219724284 

    present in Gene: SLC26A4-AS1;SLC26A4
    present in Chromosome: 7
    Position on Chromosome: 107663435
    Alleles of this Variant: G/C

rs1219724284 in SLC26A4-AS1;SLC26A4 gene and Pendred's syndrome PMID 11375792 2001 Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

PMID 14679580 2004 Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

PMID 12788906 2003 Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.

PMID 9618166 1998 Two frequent missense mutations in Pendred syndrome.

PMID 12974744 2003 Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.

PMID 9398842 1997 Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

PMID 15531480 2004 Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

PMID 11932316 2002 Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

PMID 19204907 2009 Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

PMID 15355436 2004 Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

PMID 15689455 2005 SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

PMID 11748854 2001 Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

PMID 11317356 2001 Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

PMID 10602116 2000 Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

PMID 10878664 2000 Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.

PMID 11919333 2002 Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.

PMID 9618167 1998 Molecular analysis of the PDS gene in Pendred syndrome.

PMID 10718825 2000 A novel mutation in the pendrin gene associated with Pendred's syndrome.