{{Rsnum
|rsid = 28939086
|Gene = SLC26A4
|geno1 = (A;A)
|geno2 = (A;C)
|geno3 = (C;C)
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|Chromosome=7
|position=107690220
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SLC26A4
}}{{omim
|desc=PENDRED SYNDROME
|id=605646
|rsnum=28939086
|variant=0006
}}{{ClinVar
|rsid=28939086
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=107330665
|CHROM=7
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=SLC26A4:5172
|GENE_NAME=SLC26A4
|GENE_ID=5172
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.107330665A>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1467; 605646.0006
|CLNSIG=5
|CLNCUI=C0271829; C0271829
|CLNDBN=Pendred's syndrome; Hereditary hearing loss and deafness
|Disease=Pendred's syndrome; Hereditary hearing loss and deafness
|CLNACC=RCV000005087.1; RCV000036432.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1434:NBK1467:C0271829:274600:705:70348004; NBK1434:C0236038:95827002
}}{{PMID Auto
|PMID=9618166
|Title=Two frequent missense mutations in Pendred syndrome.
}}

{{PMID Auto
|PMID=9618167
|Title=Molecular analysis of the PDS gene in Pendred 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=15531480
|Title=Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
}}

{{PMID Auto
|PMID=18310264
|Title=Heterogeneity in the processing defect of SLC26A4 mutants.
}}