||common in clinvar
||Pendred Syndrome carrier
rs111033244, also known as c.1151A>G, p.Glu384Gly and E384G, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
[PMID 183102] [Reaction capabilities and structure of poly(rG) and poly(rG)-poly(rC) in solution by the method of the kinetics of hydrogen ion exchange].
[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.
[PMID 12788906] Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
[PMID 14679580] Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
[PMID 15355436] Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
[PMID 15689455] 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.