{{Rsnum
|rsid=111033212
|Gene=SLC26A4
|Chromosome=7
|position=107689054
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SLC26A4
}}{{omim
|id=605646
|rsnum=111033212
|variant=0031
}}{{ClinVar
|rsid=111033212
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=107329499
|CHROM=7
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068000000040016110100
|GENEINFO=SLC26A4:5172
|GENE_NAME=SLC26A4
|GENE_ID=5172
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.107329499T>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNACC=RCV000005114.1; RCV000036420.1
|CLNDBN=Enlarged vestibular aqueduct syndrome; Hereditary hearing loss and deafness; Pendred's syndrome
|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
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605646.0031
|COMMON=0
|Disease=Enlarged vestibular aqueduct syndrome; Hereditary hearing loss and deafness; Pendred's syndrome
}}{{PMID Auto
|PMID=11317356
|Title=Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
}}

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

{{PMID Auto
|PMID=15689455
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=17357124
|Title=Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
}}

{{PMID Auto
|PMID=18285825
|Title=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.
}}