SLC26A4 (solute carrier family 26 member 4) - Rat Genome Database

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Gene: SLC26A4 (solute carrier family 26 member 4) Homo sapiens
Analyze
Symbol: SLC26A4
Name: solute carrier family 26 member 4
RGD ID: 736428
HGNC Page HGNC:8818
Description: Enables chloride:bicarbonate antiporter activity and iodide transmembrane transporter activity. Involved in iodide transport. Located in apical plasma membrane and extracellular exosome. Implicated in Pendred Syndrome; autosomal recessive nonsyndromic deafness 4; and goiter.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DFNB4; EVA; PDS; pendrin; sodium-independent chloride/iodide transporter; solute carrier family 26 (anion exchanger), member 4; solute carrier family 26, member 4; TDH2B; truncated solute carrier family 26
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387107,660,828 - 107,717,809 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7107,660,828 - 107,717,809 (+)EnsemblGRCh38hg38GRCh38
GRCh377107,301,273 - 107,358,254 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,088,316 - 107,145,490 (+)NCBINCBI36Build 36hg18NCBI36
Build 347106,895,030 - 106,952,201NCBI
Celera7102,106,401 - 102,163,591 (+)NCBICelera
Cytogenetic Map7q22.3NCBI
HuRef7101,661,478 - 101,718,643 (+)NCBIHuRef
CHM1_17107,235,048 - 107,292,246 (+)NCBICHM1_1
T2T-CHM13v2.07108,976,971 - 109,033,936 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27106,662,192 - 106,719,369 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-palmitoylglycerol  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (ISO)
aflatoxin B1  (EXP)
amiloride  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[ghi]perylene  (ISO)
bisphenol A  (ISO)
bisphenol F  (EXP)
buta-1,3-diene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
ceric oxide  (EXP,ISO)
chloroprene  (ISO)
chrysene  (ISO)
ciguatoxin CTX1B  (ISO)
cocaine  (ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
dibenzo[a,l]pyrene  (ISO)
diiodine  (ISO)
formic acid  (EXP)
fulvestrant  (EXP)
furosemide  (ISO)
gentamycin  (ISO)
graphene oxide  (ISO)
iodide salt  (EXP)
manganese(II) chloride  (ISO)
monosodium L-glutamate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
omega-6 fatty acid  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perchlorate  (ISO)
phenobarbital  (EXP,ISO)
potassium bromate  (ISO)
probenecid  (ISO)
progesterone  (ISO)
quartz  (ISO)
rifampicin  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sodium nitrate  (ISO)
testosterone  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IDA,IEA,ISO,ISS)
brush border membrane  (IEA,ISS)
extracellular exosome  (HDA,IDA)
membrane  (IEA,TAS)
plasma membrane  (IBA,IEA,IMP,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal circulating thyroglobulin concentration  (IAGP)
Abnormal morphology of the vestibule of the inner ear  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal temporal bone morphology  (IAGP)
Abnormal vestibular function  (IAGP)
Abnormality of the ear  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the inner ear  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Coarse facial features  (IAGP)
Cochlear malformation  (IAGP)
Coldness  (IAGP)
Compensated hypothyroidism  (IAGP)
Congenital hypothyroidism  (IAGP)
Congenital onset  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Constipation  (IAGP)
Enlarged vestibular aqueduct  (IAGP)
Facial edema  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Global developmental delay  (IAGP)
Goiter  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hoarse cry  (IAGP)
Hyperparathyroidism  (IAGP)
Hypersomnia  (IAGP)
Hypoplasia of the cochlea  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Incomplete partition of the cochlea type II  (IAGP)
Increased circulating thyroglobulin concentration  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Jaundice  (IAGP)
Large fontanelles  (IAGP)
Lethargy  (IAGP)
Macroglossia  (IAGP)
Muscle weakness  (IAGP)
Nephropathy  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Positive perchlorate discharge test  (IAGP)
Profound hearing impairment  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Respiratory insufficiency  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Thyroid agenesis  (IAGP)
Thyroid carcinoma  (IAGP)
Thyroid hypoplasia  (IAGP)
Tracheal stenosis  (IAGP)
Umbilical hernia  (IAGP)
Unconjugated hyperbilirubinemia  (IAGP)
Vertigo  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Albert S, etal., Eur J Hum Genet. 2006 Jun;14(6):773-9.
2. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Blons H, etal., Clin Genet. 2004 Oct;66(4):333-40.
3. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Campbell C, etal., Hum Mutat. 2001 May;17(5):403-11.
4. [Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation]. Chen DY, etal., Zhonghua Yi Xue Za Zhi. 2007 Oct 30;87(40):2820-4.
5. Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. Choi BY, etal., Genet Test Mol Biomarkers. 2009 Oct;13(5):679-87. doi: 10.1089/gtmb.2009.0054.
6. Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. Choi BY, etal., J Clin Invest. 2011 Nov;121(11):4516-25. doi: 10.1172/JCI59353. Epub 2011 Oct 3.
7. Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Dai P, etal., Physiol Genomics. 2009 Aug 7;38(3):281-90. doi: 10.1152/physiolgenomics.00047.2009. Epub 2009 Jun 9.
8. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Everett LA, etal., Hum Mol Genet. 2001 Jan 15;10(2):153-61.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. Li X, etal., PLoS Genet. 2013 Jul;9(7):e1003641. doi: 10.1371/journal.pgen.1003641. Epub 2013 Jul 11.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. Park HJ, etal., J Med Genet. 2003 Apr;40(4):242-8.
13. Regulation of the apical Cl-/HCO-3 exchanger pendrin in rat cortical collecting duct in metabolic acidosis. Petrovic S, etal., Am J Physiol Renal Physiol 2003 Jan;284(1):F103-12.
14. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
15. Two missense mutations in SLC26A4 gene: a molecular and functional study. Rebeh IB, etal., Clin Genet. 2010 Jul;78(1):74-80. doi: 10.1111/j.1399-0004.2009.01360.x. Epub 2009 Dec 2.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. Tekin M, etal., Clin Genet. 2003 Oct;64(4):371-4.
20. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Tsukamoto K, etal., Eur J Hum Genet. 2003 Dec;11(12):916-22.
21. The renal physiology of pendrin (SLC26A4) and its role in hypertension. Wall SM Novartis Found Symp. 2006;273:231-9; discussion 239-43, 261-4.
22. Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Wangemann P, etal., Am J Physiol Renal Physiol. 2007 May;292(5):F1345-53. Epub 2007 Feb 13.
Additional References at PubMed
PMID:8541853   PMID:8630497   PMID:8630498   PMID:8706311   PMID:9070918   PMID:9398842   PMID:9500541   PMID:9618166   PMID:9618167   PMID:10190331   PMID:10192399   PMID:10602116  
PMID:10700480   PMID:10718825   PMID:10843192   PMID:10878664   PMID:11087667   PMID:11274445   PMID:11375792   PMID:11581495   PMID:11716048   PMID:11748854   PMID:11834742   PMID:11919333  
PMID:11932316   PMID:12107249   PMID:12112665   PMID:12727855   PMID:12727986   PMID:12788906   PMID:12853948   PMID:14679580   PMID:14715652   PMID:15155570   PMID:15279074   PMID:15531480  
PMID:15679828   PMID:15689455   PMID:15784681   PMID:15905611   PMID:16260428   PMID:16260629   PMID:16283880   PMID:16684826   PMID:16928804   PMID:17007371   PMID:17309986   PMID:17443271  
PMID:17503324   PMID:17690912   PMID:17697873   PMID:17718863   PMID:17766716   PMID:17851929   PMID:17854396   PMID:17949297   PMID:18067822   PMID:18075246   PMID:18250610   PMID:18274916  
PMID:18283249   PMID:18285825   PMID:18310264   PMID:18316665   PMID:18322141   PMID:18335745   PMID:18368581   PMID:18424749   PMID:18427006   PMID:18585793   PMID:18641360   PMID:18641518  
PMID:18692402   PMID:18710471   PMID:18813951   PMID:18988928   PMID:19017801   PMID:19027966   PMID:19040761   PMID:19050049   PMID:19056867   PMID:19196800   PMID:19199245   PMID:19204907  
PMID:19266817   PMID:19287372   PMID:19289392   PMID:19426954   PMID:19429184   PMID:19558834   PMID:19578036   PMID:19608655   PMID:19615760   PMID:19648736   PMID:19673989   PMID:19718752  
PMID:19730683   PMID:19744334   PMID:19786220   PMID:19787632   PMID:19954013   PMID:19998422   PMID:20056178   PMID:20235449   PMID:20301607   PMID:20301640   PMID:20359100   PMID:20483489  
PMID:20553101   PMID:20597900   PMID:20601923   PMID:20621367   PMID:20668687   PMID:20739942   PMID:20826203   PMID:20842945   PMID:20857898   PMID:20931531   PMID:21035230   PMID:21045265  
PMID:21082674   PMID:21154317   PMID:21162657   PMID:21174747   PMID:21187047   PMID:21366435   PMID:21416585   PMID:21757707   PMID:21809555   PMID:21814192   PMID:21873635   PMID:21914796  
PMID:21961810   PMID:22116356   PMID:22116359   PMID:22116360   PMID:22285650   PMID:22389666   PMID:22412181   PMID:22429511   PMID:22444735   PMID:22509691   PMID:22551242   PMID:22717225  
PMID:22750442   PMID:22796198   PMID:22884721   PMID:22906308   PMID:22918213   PMID:22924538   PMID:23151031   PMID:23174149   PMID:23185506   PMID:23246836   PMID:23273637   PMID:23280318  
PMID:23296490   PMID:23336812   PMID:23376485   PMID:23385134   PMID:23401162   PMID:23452581   PMID:23504402   PMID:23638949   PMID:23705809   PMID:23743675   PMID:23755160   PMID:23766534  
PMID:23770805   PMID:23815884   PMID:23834103   PMID:23838540   PMID:23941406   PMID:23958391   PMID:23965030   PMID:24007330   PMID:24051746   PMID:24105851   PMID:24224479   PMID:24245694  
PMID:24248179   PMID:24338212   PMID:24341454   PMID:24429826   PMID:24429829   PMID:24599119   PMID:24647542   PMID:24737404   PMID:24804242   PMID:24941117   PMID:25015771   PMID:25239229  
PMID:25251670   PMID:25290043   PMID:25358692   PMID:25390158   PMID:25468468   PMID:25488846   PMID:25493717   PMID:25649612   PMID:25724631   PMID:25761933   PMID:25885414   PMID:25999548  
PMID:26022370   PMID:26035154   PMID:26037344   PMID:26100058   PMID:26143180   PMID:26188157   PMID:26252218   PMID:26285906   PMID:26313899   PMID:26397989   PMID:26485571   PMID:26549381  
PMID:26650914   PMID:26663044   PMID:26886089   PMID:26894580   PMID:26900070   PMID:26932931   PMID:27066914   PMID:27082237   PMID:27090054   PMID:27109633   PMID:27176802   PMID:27240500  
PMID:27247933   PMID:27308839   PMID:27610647   PMID:27729126   PMID:27743438   PMID:27771369   PMID:27859305   PMID:27861301   PMID:27863619   PMID:28091472   PMID:28389359   PMID:28498466  
PMID:28583500   PMID:28604962   PMID:28718179   PMID:28780189   PMID:28780564   PMID:28786104   PMID:28941661   PMID:28949777   PMID:28964290   PMID:28990112   PMID:29320412   PMID:29348084  
PMID:29434063   PMID:29501320   PMID:29634755   PMID:29739340   PMID:29772533   PMID:29777056   PMID:30036422   PMID:30068397   PMID:30077349   PMID:30113565   PMID:30235673   PMID:30298483  
PMID:30473558   PMID:30842343   PMID:30970410   PMID:31033086   PMID:31035178   PMID:31124793   PMID:31187663   PMID:31243244   PMID:31266487   PMID:31599023   PMID:31633822   PMID:31656273  
PMID:31692010   PMID:31918801   PMID:31971949   PMID:32165640   PMID:32417962   PMID:32447495   PMID:32645618   PMID:32770655   PMID:33152970   PMID:33173144   PMID:33186222   PMID:33199029  
PMID:33231815   PMID:33307573   PMID:33961781   PMID:34345941   PMID:34410491   PMID:34545167   PMID:34628810   PMID:34680964   PMID:34697379   PMID:34880202   PMID:34936523   PMID:35249537  
PMID:35601831   PMID:35836192   PMID:36072472   PMID:36217650   PMID:36362242   PMID:36499699   PMID:36553459   PMID:36748152   PMID:36780306   PMID:37071682   PMID:37107686   PMID:37477685  
PMID:37996878   PMID:38029595   PMID:38110744   PMID:38378613   PMID:38474007   PMID:38673775   PMID:38720048   PMID:39383236   PMID:39414589  


Genomics

Comparative Map Data
SLC26A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387107,660,828 - 107,717,809 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7107,660,828 - 107,717,809 (+)EnsemblGRCh38hg38GRCh38
GRCh377107,301,273 - 107,358,254 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,088,316 - 107,145,490 (+)NCBINCBI36Build 36hg18NCBI36
Build 347106,895,030 - 106,952,201NCBI
Celera7102,106,401 - 102,163,591 (+)NCBICelera
Cytogenetic Map7q22.3NCBI
HuRef7101,661,478 - 101,718,643 (+)NCBIHuRef
CHM1_17107,235,048 - 107,292,246 (+)NCBICHM1_1
T2T-CHM13v2.07108,976,971 - 109,033,936 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27106,662,192 - 106,719,369 (+)NCBI
Slc26a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391231,569,813 - 31,610,054 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1231,569,826 - 31,609,968 (-)EnsemblGRCm39 Ensembl
GRCm381231,519,814 - 31,560,055 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1231,519,827 - 31,559,969 (-)EnsemblGRCm38mm10GRCm38
MGSCv371232,204,684 - 32,244,834 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361232,105,578 - 32,145,728 (-)NCBIMGSCv36mm8
Celera1232,968,822 - 33,008,973 (-)NCBICelera
Cytogenetic Map12A2NCBI
cM Map1213.53NCBI
Slc26a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8653,835,102 - 53,873,968 (-)NCBIGRCr8
mRatBN7.2648,107,575 - 48,153,762 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl648,107,588 - 48,145,703 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx648,413,592 - 48,453,234 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0648,728,513 - 48,768,155 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0648,168,792 - 48,208,193 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0650,809,103 - 50,848,443 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl650,808,923 - 50,846,965 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0659,479,842 - 59,520,531 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4649,389,212 - 49,427,000 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1649,392,337 - 49,430,126 (-)NCBI
Celera647,310,126 - 47,347,924 (-)NCBICelera
Cytogenetic Map6q16NCBI
Slc26a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541012,009,102 - 12,059,637 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541012,008,067 - 12,057,147 (+)NCBIChiLan1.0ChiLan1.0
SLC26A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26144,504,830 - 144,562,226 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17192,774,798 - 192,832,194 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0799,640,703 - 99,698,109 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17112,363,119 - 112,418,633 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7112,364,126 - 112,415,637 (+)Ensemblpanpan1.1panPan2
SLC26A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11812,894,347 - 12,941,669 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1812,894,669 - 12,943,212 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1812,536,263 - 12,586,953 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01813,163,396 - 13,214,301 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1813,165,741 - 13,213,145 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11812,980,322 - 13,030,889 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01812,900,588 - 12,950,775 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01813,129,256 - 13,179,537 (-)NCBIUU_Cfam_GSD_1.0
Slc26a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511855,311,980 - 55,358,504 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647916,435,739 - 16,481,332 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647916,435,779 - 16,483,139 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC26A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9107,365,814 - 107,431,062 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19107,365,121 - 107,431,065 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29118,119,384 - 118,183,897 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC26A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12176,578,035 - 76,631,725 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2176,578,665 - 76,633,165 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604227,231,539 - 27,289,239 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc26a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473922,047,704 - 22,100,154 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473922,047,771 - 22,100,130 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC26A4
1320 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000441.2(SLC26A4):c.1957G>C (p.Val653Leu) single nucleotide variant Pendred syndrome [RCV001834707]|not provided [RCV000523909] Chr7:107701980 [GRCh38]
Chr7:107342425 [GRCh37]
Chr7:7q22.3		 uncertain significance
SLC26A4, 1-BP DEL, 1565G deletion Pendred syndrome [RCV000005082] Chr7:7q31 pathogenic
SLC26A4, 1-BP DEL, 1421T deletion Pendred syndrome [RCV000005083] Chr7:7q31 pathogenic
NM_000441.2(SLC26A4):c.917del (p.Val306fs) deletion Autosomal recessive nonsyndromic hearing loss 4 [RCV000005084] Chr7:107683353 [GRCh38]
Chr7:107323798 [GRCh37]
Chr7:7q22.3		 pathogenic
SLC26A4, 5-BP INS, NT2111 insertion Autosomal recessive nonsyndromic hearing loss 4 [RCV000005093] Chr7:7q31 pathogenic
SLC26A4, 1-BP DEL, 279T deletion Pendred's syndrome [RCV000005098] Chr7:7q31 pathogenic
NM_000441.2(SLC26A4):c.415+7A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV003155017]|Pendred syndrome [RCV000005099]|not provided [RCV003555919] Chr7:107672255 [GRCh38]
Chr7:107312700 [GRCh37]
Chr7:7q22.3		 pathogenic
SLC26A4, 1-BP DEL, 1197T deletion Pendred syndrome [RCV000005102] Chr7:7q31 pathogenic
NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter) insertion Pendred syndrome [RCV000005103] Chr7:107710146..107710147 [GRCh38]
Chr7:107350591..107350592 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.1002-4C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV003472969]|Pendred syndrome [RCV000005104] Chr7:107689049 [GRCh38]
Chr7:107329494 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.2047T>G (p.Phe683Val) single nucleotide variant not provided [RCV000722438] Chr7:107704343 [GRCh38]
Chr7:107344788 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.1614+7A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001164803]|Pendred syndrome [RCV001164804]|SLC26A4-related disorder [RCV004540031]|not provided [RCV000835660]|not specified [RCV000727835] Chr7:107698118 [GRCh38]
Chr7:107338563 [GRCh37]
Chr7:7q22.3		 benign|likely benign|uncertain significance
NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?)) duplication Rare genetic deafness [RCV000601023] Chr7:107672138..107672248 [GRCh38]
Chr7:107312583..107312693 [GRCh37]
Chr7:7q22.3		 likely pathogenic
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV003471971]|Rare genetic deafness [RCV000603987]|not provided [RCV001868006] Chr7:107690205 [GRCh38]
Chr7:107330650 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys) single nucleotide variant Pendred syndrome [RCV000005081] Chr7:107702023 [GRCh38]
Chr7:107342468 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000036505]|Autosomal recessive nonsyndromic hearing loss 4 [RCV001089560]|Hearing impairment [RCV001375179]|Pendred syndrome [RCV000005086]|Rare genetic deafness [RCV000824766]|SLC26A4-related disorder [RCV004528073]|not provided [RCV000524013] Chr7:107675051 [GRCh38]
Chr7:107315496 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000036432]|Autosomal recessive nonsyndromic hearing loss 4 [RCV001004638]|Pendred syndrome [RCV000005087]|Rare genetic deafness [RCV000824771]|SLC26A4-related disorder [RCV004528074]|not provided [RCV000435157] Chr7:107690220 [GRCh38]
Chr7:107330665 [GRCh37]
Chr7:7q22.3		 pathogenic|affects|conflicting interpretations of pathogenicity
NM_000441.2(SLC26A4):c.1001+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000036418]|Autosomal recessive nonsyndromic hearing loss 4 [RCV000477914]|Pendred syndrome [RCV000005088]|Rare genetic deafness [RCV000824768]|SLC26A4-related disorder [RCV004528075]|not provided [RCV000239276] Chr7:107683538 [GRCh38]
Chr7:107323983 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001095693]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002482829]|Pendred syndrome [RCV000005089]|Rare genetic deafness [RCV000036425]|SLC26A4-related disorder [RCV004528076]|not provided [RCV000520205] Chr7:107690125 [GRCh38]
Chr7:107330570 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005090]|Autosomal recessive nonsyndromic hearing loss 4 [RCV000036501]|Pendred syndrome [RCV000344627]|Rare genetic deafness [RCV000824764]|SLC26A4-related disorder [RCV004528077]|not provided [RCV000308471] Chr7:107674970 [GRCh38]
Chr7:107315415 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005091] Chr7:107689156 [GRCh38]
Chr7:107329601 [GRCh37]
Chr7:7q22.3		 pathogenic|affects
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005092] Chr7:107689166 [GRCh38]
Chr7:107329611 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005094]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002476929]|Pendred syndrome [RCV000005095]|Rare genetic deafness [RCV000036477]|SLC26A4-related disorder [RCV004528078]|not provided [RCV000480319] Chr7:107710132 [GRCh38]
Chr7:107350577 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005096]|Pendred syndrome [RCV000005097]|Rare genetic deafness [RCV000154350]|not provided [RCV001057908] Chr7:107710126 [GRCh38]
Chr7:107350571 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001004641]|Pendred syndrome [RCV000005100]|Rare genetic deafness [RCV000036437]|not provided [RCV000413198] Chr7:107694473 [GRCh38]
Chr7:107334918 [GRCh37]
Chr7:7q22.3		 pathogenic|affects
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000036499]|Autosomal recessive nonsyndromic hearing loss 4 [RCV000770869]|Pendred syndrome [RCV000005101]|Rare genetic deafness [RCV000824763]|not provided [RCV001389159] Chr7:107674326 [GRCh38]
Chr7:107314771 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|affects
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001004622]|Pendred syndrome [RCV000005105]|not provided [RCV001851661] Chr7:107672230 [GRCh38]
Chr7:107312675 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|affects
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000036493]|Autosomal recessive nonsyndromic hearing loss 4 [RCV001813952]|Hearing impairment [RCV001375189]|Pendred syndrome [RCV000005106]|Rare genetic deafness [RCV000824762]|SLC26A4-related disorder [RCV004528079]|not provided [RCV000413949] Chr7:107672245 [GRCh38]
Chr7:107312690 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV003472970]|Pendred syndrome [RCV000005107]|Rare genetic deafness [RCV000036449]|not provided [RCV001229712] Chr7:107698085 [GRCh38]
Chr7:107338530 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NC_000007.14:g.107660756T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005110]|Hearing impairment [RCV001375210]|Pendred syndrome [RCV000005109]|SLC26A4-related disorder [RCV004528080]|not provided [RCV000412985]|not specified [RCV000154443] Chr7:107660756 [GRCh38]
Chr7:107301201 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005111]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496264]|Pendred syndrome [RCV000169251]|Rare genetic deafness [RCV000036509]|SLC26A4-related disorder [RCV004528081]|Wolff-Parkinson-White pattern [RCV000656195]|not provided [RCV001040420] Chr7:107661726 [GRCh38]
Chr7:107302171 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.919-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005112]|Autosomal recessive nonsyndromic hearing loss 4 [RCV000036513]|Hearing loss, autosomal recessive [RCV001291247]|Pendred syndrome [RCV000169120]|Rare genetic deafness [RCV000824767]|SLC26A4-related disorder [RCV004737136]|not provided [RCV000414330] Chr7:107683453 [GRCh38]
Chr7:107323898 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005113]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002476930]|Pendred syndrome [RCV001753402]|not provided [RCV002512793] Chr7:107696035 [GRCh38]
Chr7:107336480 [GRCh37]
Chr7:7q22.3		 pathogenic|not provided
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000005114]|Autosomal recessive nonsyndromic hearing loss 4 [RCV000036420]|Pendred syndrome [RCV000576732]|Rare genetic deafness [RCV000824769]|SLC26A4-related disorder [RCV002291265]|not provided [RCV000656976] Chr7:107689054 [GRCh38]
Chr7:107329499 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000441.2(SLC26A4):c.*11G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001159995]|Pendred syndrome [RCV001159994]|not provided [RCV001610314]|not specified [RCV000036413] Chr7:107715457 [GRCh38]
Chr7:107355902 [GRCh37]
Chr7:7q22.3		 benign|likely benign
NC_000007.14:g.107660670A>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001160934]|Pendred syndrome [RCV001160933]|not specified [RCV000036414] Chr7:107660670 [GRCh38]
Chr7:107301115 [GRCh37]
Chr7:7q22.3		 likely benign|uncertain significance
NM_000441.2(SLC26A4):c.-3-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000036415]|Autosomal recessive nonsyndromic hearing loss 4 [RCV001785456]|Pendred syndrome [RCV000665503]|Rare genetic deafness [RCV000824761]|SLC26A4-related disorder [RCV004534761]|not provided [RCV001063867] Chr7:107661637 [GRCh38]
Chr7:107302082 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.-66C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000304663]|Pendred syndrome [RCV000265909]|not provided [RCV001668153]|not specified [RCV000036416] Chr7:107660793 [GRCh38]
Chr7:107301238 [GRCh37]
Chr7:7q22.3		 benign|likely benign
NC_000007.14:g.107660793C>T single nucleotide variant not provided [RCV004724762]|not specified [RCV000036417] Chr7:107660793 [GRCh38]
Chr7:107301238 [GRCh37]
Chr7:7q22.3		 likely benign|uncertain significance
NM_000441.2(SLC26A4):c.1002-9A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001159774]|Pendred syndrome [RCV000674864]|not provided [RCV000442573]|not specified [RCV000036419] Chr7:107689044 [GRCh38]
Chr7:107329489 [GRCh37]
Chr7:7q22.3		 benign|likely benign
NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr) single nucleotide variant Pendred syndrome [RCV001831647]|not specified [RCV000036421] Chr7:107689105 [GRCh38]
Chr7:107329550 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000367654]|Pendred syndrome [RCV000275313]|SLC26A4-related disorder [RCV004541094]|not provided [RCV000906081]|not specified [RCV000036422] Chr7:107689120 [GRCh38]
Chr7:107329565 [GRCh37]
Chr7:7q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001004634]|Nonsyndromic genetic hearing loss [RCV003990962]|Pendred syndrome [RCV000987940]|SLC26A4-related disorder [RCV004541095]|not provided [RCV000756644]|not specified [RCV000036423] Chr7:107689112 [GRCh38]
Chr7:107329557 [GRCh37]
Chr7:7q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000441.2(SLC26A4):c.1149+3A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV002477083]|Autosomal recessive nonsyndromic hearing loss 4 [RCV003152674]|Pendred syndrome [RCV001831648]|Rare genetic deafness [RCV000036424]|not provided [RCV001574741] Chr7:107689203 [GRCh38]
Chr7:107329648 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) deletion Autosomal recessive nonsyndromic hearing loss 4 [RCV000225034]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496558]|Hearing loss, autosomal recessive [RCV001291249]|Pendred syndrome [RCV000169097]|Rare genetic deafness [RCV000036426]|not provided [RCV000802527] Chr7:107690171 [GRCh38]
Chr7:107330616 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV003473262]|Pendred syndrome [RCV001171536]|Rare genetic deafness [RCV000036427]|SLC26A4-related disorder [RCV004528181]|not provided [RCV002272039] Chr7:107690178 [GRCh38]
Chr7:107330623 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000515653]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496559]|Ear malformation [RCV001814024]|Hearing loss, autosomal recessive [RCV001291345]|Pendred syndrome [RCV000169222]|Rare genetic deafness [RCV000036428]|not provided [RCV000424441]|not specified [RCV000506765] Chr7:107690200 [GRCh38]
Chr7:107330645 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001814025]|Autosomal recessive nonsyndromic hearing loss 4 [RCV003473263]|Hearing loss, autosomal recessive [RCV001291346]|Rare genetic deafness [RCV000036429]|not provided [RCV002513381] Chr7:107690200 [GRCh38]
Chr7:107330645 [GRCh37]
Chr7:7q22.3		 likely pathogenic
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000036430]|Autosomal recessive nonsyndromic hearing loss 4 [RCV000515696]|Hearing loss, autosomal recessive [RCV001291347]|Pendred syndrome [RCV000576483]|Rare genetic deafness [RCV000824770]|not provided [RCV000268093] Chr7:107690203 [GRCh38]
Chr7:107330648 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001785457]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002490496]|Pendred syndrome [RCV000670464]|not provided [RCV003137559]|not specified [RCV000036431] Chr7:107690208 [GRCh38]
Chr7:107330653 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.1264-1G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV002482976]|Autosomal recessive nonsyndromic hearing loss 4 [RCV003473264]|Pendred syndrome [RCV000169533]|Rare genetic deafness [RCV000036433]|not provided [RCV001378587] Chr7:107694402 [GRCh38]
Chr7:107334847 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) microsatellite Autosomal recessive nonsyndromic hearing loss 4 [RCV002470729]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002482977]|Pendred syndrome [RCV000169051]|Rare genetic deafness [RCV000036434]|not provided [RCV001209562] Chr7:107694419..107694421 [GRCh38]
Chr7:107334864..107334866 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1299C>T (p.Ile433=) single nucleotide variant not provided [RCV001440530]|not specified [RCV000036435] Chr7:107694438 [GRCh38]
Chr7:107334883 [GRCh37]
Chr7:7q22.3		 likely benign
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) deletion Autosomal recessive nonsyndromic hearing loss 4 [RCV001785458]|Pendred syndrome [RCV000669085]|not provided [RCV001852759]|not specified [RCV000036436] Chr7:107694445..107694450 [GRCh38]
Chr7:107334890..107334895 [GRCh37]
Chr7:7q22.3		 likely pathogenic|uncertain significance
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001785459]|Pendred syndrome [RCV000169037]|Rare genetic deafness [RCV000036438]|not provided [RCV002513382] Chr7:107694475 [GRCh38]
Chr7:107334920 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1341+1del deletion Autosomal recessive nonsyndromic hearing loss 4 [RCV001807761]|Pendred syndrome [RCV000454189]|Rare genetic deafness [RCV000036439]|not provided [RCV001852760] Chr7:107694480 [GRCh38]
Chr7:107334925 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.1(SLC26A4):c.1342-2_1343dup duplication Autosomal recessive nonsyndromic hearing loss 4 [RCV003473265]|Pendred syndrome [RCV001831649]|Rare genetic deafness [RCV000036440]|SLC26A4-related disorder [RCV004534762]|not provided [RCV001248593] Chr7:107694617..107694618 [GRCh38]
Chr7:107335064..107335067 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001162716]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496560]|Microcephaly 5, primary, autosomal recessive [RCV001258258]|Pendred syndrome [RCV000710343]|not provided [RCV000441541]|not specified [RCV000036441] Chr7:107694642 [GRCh38]
Chr7:107335087 [GRCh37]
Chr7:7q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.1437+2T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001785460]|Pendred syndrome [RCV000410548]|Rare genetic deafness [RCV000036442]|SLC26A4-related disorder [RCV004528182]|not provided [RCV001056726] Chr7:107694718 [GRCh38]
Chr7:107335163 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001162718]|Pendred syndrome [RCV000169380]|not provided [RCV000956519]|not specified [RCV000036443] Chr7:107695983 [GRCh38]
Chr7:107336428 [GRCh37]
Chr7:7q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001004645]|Deafness [RCV004798754]|Hearing impairment [RCV001375472]|Pendred syndrome [RCV000169242]|Rare genetic deafness [RCV000036444]|not provided [RCV000489866] Chr7:107695984 [GRCh38]
Chr7:107336429 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|affects|uncertain significance
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV003473266]|Pendred syndrome [RCV000666548]|Rare genetic deafness [RCV000036445]|SLC26A4-related disorder [RCV004737174]|not provided [RCV000320959]|not specified [RCV000507599] Chr7:107696036 [GRCh38]
Chr7:107336481 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1545-14_1545-12del deletion not provided [RCV001570671]|not specified [RCV000036446] Chr7:107698027..107698029 [GRCh38]
Chr7:107338472..107338474 [GRCh37]
Chr7:7q22.3		 benign|likely benign
NM_000441.2(SLC26A4):c.1545-5T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV002496561]|Pendred syndrome [RCV001277149]|not provided [RCV000884663]|not specified [RCV000036447] Chr7:107698037 [GRCh38]
Chr7:107338482 [GRCh37]
Chr7:7q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs) insertion Rare genetic deafness [RCV000036448] Chr7:107698045..107698046 [GRCh38]
Chr7:107338490..107338491 [GRCh37]
Chr7:7q22.3		 likely pathogenic
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001164582]|Pendred syndrome [RCV000674869]|not provided [RCV000956517]|not specified [RCV000036450] Chr7:107661656 [GRCh38]
Chr7:107302101 [GRCh37]
Chr7:7q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.1614+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000515698]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002477084]|Pendred syndrome [RCV000984218]|Rare genetic deafness [RCV000036451]|not provided [RCV000359760] Chr7:107698112 [GRCh38]
Chr7:107338557 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) single nucleotide variant Pendred syndrome [RCV000671670]|not provided [RCV000725035]|not specified [RCV000036452] Chr7:107698111 [GRCh38]
Chr7:107338556 [GRCh37]
Chr7:7q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.164+2T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV003473267]|Pendred syndrome [RCV000984221]|Rare genetic deafness [RCV000036453]|not provided [RCV000328168] Chr7:107661807 [GRCh38]
Chr7:107302252 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001004646]|Pendred syndrome [RCV000666339]|Rare genetic deafness [RCV000036454]|not provided [RCV001781350] Chr7:107700162 [GRCh38]
Chr7:107340607 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|affects
NM_000441.2(SLC26A4):c.1698C>G (p.Ile566Met) single nucleotide variant not specified [RCV000036455] Chr7:107700166 [GRCh38]
Chr7:107340611 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV002496562]|Autosomal recessive nonsyndromic hearing loss 4 [RCV003473268]|Pendred syndrome [RCV000673671]|SLC26A4-related disorder [RCV004534763]|not provided [RCV000497745]|not specified [RCV000036456] Chr7:107701101 [GRCh38]
Chr7:107341546 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) single nucleotide variant Pendred syndrome [RCV000410723]|Rare genetic deafness [RCV000036457]|not provided [RCV003324721] Chr7:107663301 [GRCh38]
Chr7:107303746 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro) single nucleotide variant Pendred syndrome [RCV001831650]|not provided [RCV001355805]|not specified [RCV000036458] Chr7:107701159 [GRCh38]
Chr7:107341604 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001164583]|Pendred syndrome [RCV000169379]|not provided [RCV000757777]|not specified [RCV000036459] Chr7:107661658 [GRCh38]
Chr7:107302103 [GRCh37]
Chr7:7q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000755654]|Autosomal recessive nonsyndromic hearing loss 4 [RCV001197464]|Pendred syndrome [RCV001164805]|not provided [RCV000428613]|not specified [RCV000036460] Chr7:107701183 [GRCh38]
Chr7:107341628 [GRCh37]
Chr7:7q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000317486]|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496563]|Pendred syndrome [RCV000374325]|not provided [RCV000713334]|not specified [RCV000036461] Chr7:107701849 [GRCh38]
Chr7:107342294 [GRCh37]
Chr7:7q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001159887]|Pendred syndrome [RCV001004781]|SLC26A4-related disorder [RCV004534764]|not provided [RCV000966198]|not specified [RCV000036462] Chr7:107701947 [GRCh38]
Chr7:107342392 [GRCh37]
Chr7:7q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV003473269]|Autosomal recessive nonsyndromic hearing loss 4 [RCV004795954]|Deafness [RCV004798755]|Pendred syndrome [RCV000675129]|Rare genetic deafness [RCV000036463]|not provided [RCV003727609] Chr7:107701986 [GRCh38]
Chr7:107342431 [GRCh37]
Chr7:7q22.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001159888]|Pendred syndrome [RCV000667285]|not provided [RCV001510117]|not specified [RCV000036464] Chr7:107702006 [GRCh38]
Chr7:107342451 [GRCh37]
Chr7:7q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr) single nucleotide variant Pendred syndrome [RCV001277151]|not specified [RCV000036465] Chr7:107702019 [GRCh38]
Chr7:107342464 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) single nucleotide variant Pendred syndrome [RCV000671610]|SLC26A4-related disorder [RCV004541096]|not provided [RCV001071424]|not specified [RCV000036466] Chr7:107663331 [GRCh38]
Chr7:107303776 [GRCh37]
Chr7:7q22.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001161291]|Autosomal recessive nonsyndromic hearing loss 4 [RCV001824586]|Pendred syndrome [RCV000778812]|Rare genetic deafness [RCV000036467]|SLC26A4-related disorder [RCV002291269]|not provided [RCV000801210] Chr7:107702038 [GRCh38]
Chr7:107342483 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV000770856]|Autosomal recessive nonsyndromic hearing loss 4 [RCV004795955]|Pendred syndrome [RCV000169448]|Rare genetic deafness [RCV000036468]|not provided [RCV001170043] Chr7:107702050 [GRCh38]
Chr7:107342495 [GRCh37]
Chr7:7q22.3		 pathogenic|likely pathogenic
NM_000441.2(SLC26A4):c.2029C>A (p.Arg677=) single nucleotide variant not provided [RCV002054589]|not specified [RCV000036469] Chr7:107702052 [GRCh38]
Chr7:107342497 [GRCh37]
Chr7:7q22.3		 likely benign
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001785461]|Pendred syndrome [RCV000671555]|not provided [RCV001556359]|not specified [RCV000036470] Chr7:107704355 [GRCh38]
Chr7:107344800 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala) single nucleotide variant Pendred syndrome [RCV001826556]|not provided [RCV001852761]|not specified [RCV000036471] Chr7:107710054 [GRCh38]
Chr7:107350499 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.209C>T (p.Pro70Leu) single nucleotide variant not specified [RCV000036472] Chr7:107663340 [GRCh38]
Chr7:107303785 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001162819]|Pendred syndrome [RCV001162820]|not provided [RCV000713335]|not specified [RCV000036473] Chr7:107710094 [GRCh38]
Chr7:107350539 [GRCh37]
Chr7:7q22.3		 benign|likely benign
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 4 [RCV001785462]|Pendred syndrome [RCV000668787]|not specified [RCV000036474] Chr7:107710095 [GRCh38]
Chr7:107350540 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) single nucleotide variant Pendred syndrome [RCV000671686]|SLC26A4-related disorder [RCV004534765]|not provided [RCV000947056]|not specified [RCV000036475] Chr7:107710103 [GRCh38]
Chr7:107