||carrier of a Pendred Syndrome allele
||common in clinvar
rs111033307, also known as L445W, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
[PMID 96181] Linkage between a gene for a serum protein and the gene for the Ig kappa light chain in rabbits.
[PMID 10602116] Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
[PMID 11748854] Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
[PMID 18285825] A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
[PMID 18813951] Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
[PMID 19204907] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?