{{Rsnum
|rsid=111033308
|Chromosome=7
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SLC26A4
|position=107695984
|Gene_s=SLC26A4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033308
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=107336429
|CHROM=7
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068000000000002110100
|GENEINFO=SLC26A4:5172
|GENE_NAME=SLC26A4
|GENE_ID=5172
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.107336429G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605646.0004
|CLNSIG=5
|CLNCUI=C1863752
|CLNDBN=Enlarged vestibular aqueduct syndrome; Hereditary hearing loss and deafness; Pendred's syndrome
|Disease=Enlarged vestibular aqueduct syndrome; Hereditary hearing loss and deafness; Pendred's syndrome
|CLNACC=RCV000005085.1; RCV000036444.1
|Tags=PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1434:NBK1467:C1863752:600791:90636; NBK1434:C0236038:95827002; NBK1434:NBK1467:C0271829:274600:705:70348004
}}{{PMID|9500541}} A mutation in PDS causes non-syndromic recessive deafness.

{{PMID|10861298}} Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

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

{{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|18310264}} Heterogeneity in the processing defect of SLC26A4 mutants.