SLC26A5 (solute carrier family 26 member 5) - Rat Genome Database

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Gene: SLC26A5 (solute carrier family 26 member 5) Homo sapiens
Analyze
Symbol: SLC26A5
Name: solute carrier family 26 member 5
RGD ID: 1603482
HGNC Page HGNC:9359
Description: Enables protein homodimerization activity. Involved in sensory perception of sound. Located in lateral plasma membrane. Implicated in autosomal recessive nonsyndromic deafness 61.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DFNB61; MGC118886; MGC118887; MGC118888; MGC118889; PRES; prestin; prestin (motor protein); solute carrier family 26 (anion exchanger), member 5; solute carrier family 26, member 5; solute carrier family 26, member 5 (prestin)
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
GRCh387103,352,730 - 103,446,207 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7103,352,730 - 103,446,207 (-)EnsemblGRCh38hg38GRCh38
GRCh377102,993,177 - 103,086,654 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367102,780,413 - 102,873,834 (-)NCBINCBI36Build 36hg18NCBI36
Celera797,800,386 - 97,892,942 (-)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef797,355,533 - 97,447,053 (-)NCBIHuRef
CHM1_17102,926,169 - 103,019,937 (-)NCBICHM1_1
T2T-CHM13v2.07104,667,171 - 104,760,648 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27102,353,543 - 102,447,443 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Cochlear function in Prestin knockout mice. Cheatham MA, etal., J Physiol. 2004 Nov 1;560(Pt 3):821-30. Epub 2004 Aug 19.
2. Aging outer hair cells (OHCs) in the Fischer 344 rat cochlea: function and morphology. Chen GD, etal., Hear Res. 2009 Feb;248(1-2):39-47. doi: 10.1016/j.heares.2008.11.010. Epub 2008 Dec 10.
3. An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Lewis MA, etal., Nat Genet. 2009 May;41(5):614-8. doi: 10.1038/ng.369. Epub 2009 Apr 12.
4. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Liu XZ, etal., Hum Mol Genet. 2003 May 15;12(10):1155-62.
5. Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China. Lu Y, etal., J Biomed Res. 2011 Sep;25(5):309-18. doi: 10.1016/S1674-8301(11)60042-0.
6. Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants. Mustapha M, etal., J Neurosci. 2009 Jan 28;29(4):1212-23. doi: 10.1523/JNEUROSCI.4957-08.2009.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. Tang HY, etal., BMC Med Genet. 2005 Aug 8;6:30.
12. Thyroid hormone receptor alpha1 is a critical regulator for the expression of ion channels during final differentiation of outer hair cells. Winter H, etal., Histochem Cell Biol. 2007 Jul;128(1):65-75. Epub 2007 May 23.
13. Prestin regulation and function in residual outer hair cells after noise-induced hearing loss. Xia A, etal., PLoS One. 2013 Dec 20;8(12):e82602. doi: 10.1371/journal.pone.0082602. eCollection 2013.
Additional References at PubMed
PMID:9847074   PMID:10821263   PMID:11087667   PMID:11423665   PMID:11581495   PMID:11836512   PMID:11867734   PMID:12239568   PMID:12477932   PMID:12584604   PMID:12853948   PMID:14553901  
PMID:14747354   PMID:15140192   PMID:15660259   PMID:16344560   PMID:16873410   PMID:17151276   PMID:17786286   PMID:17933870   PMID:18073211   PMID:18567583   PMID:18988928   PMID:19027966  
PMID:19492055   PMID:19515900   PMID:19737539   PMID:19926791   PMID:20301607   PMID:20471983   PMID:20668687   PMID:21813750   PMID:21873635   PMID:21975444   PMID:23212912   PMID:23506885  
PMID:23542924   PMID:23660400   PMID:23665419   PMID:23762468   PMID:24138858   PMID:24453323   PMID:24647542   PMID:25920562   PMID:26283790   PMID:26903308   PMID:27041369   PMID:28422190  
PMID:29777056   PMID:31053797   PMID:32296183   PMID:34273409   PMID:34390643   PMID:35064195   PMID:38237483   PMID:38431907   PMID:38474007  


Genomics

Comparative Map Data
SLC26A5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387103,352,730 - 103,446,207 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7103,352,730 - 103,446,207 (-)EnsemblGRCh38hg38GRCh38
GRCh377102,993,177 - 103,086,654 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367102,780,413 - 102,873,834 (-)NCBINCBI36Build 36hg18NCBI36
Celera797,800,386 - 97,892,942 (-)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef797,355,533 - 97,447,053 (-)NCBIHuRef
CHM1_17102,926,169 - 103,019,937 (-)NCBICHM1_1
T2T-CHM13v2.07104,667,171 - 104,760,648 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27102,353,543 - 102,447,443 (-)NCBI
Slc26a5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39522,013,999 - 22,070,602 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl522,015,653 - 22,070,602 (-)EnsemblGRCm39 Ensembl
GRCm38521,809,001 - 21,865,604 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl521,810,655 - 21,865,604 (-)EnsemblGRCm38mm10GRCm38
MGSCv37521,316,473 - 21,371,422 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36521,322,479 - 21,377,428 (-)NCBIMGSCv36mm8
Celera518,781,281 - 18,837,517 (-)NCBICelera
Cytogenetic Map5A3NCBI
cM Map59.97NCBI
Slc26a5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8414,102,492 - 14,141,520 (+)NCBIGRCr8
mRatBN7.2413,210,260 - 13,249,289 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl413,210,260 - 13,249,289 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx418,355,676 - 18,394,701 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0414,172,343 - 14,209,428 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0412,541,325 - 12,580,338 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.049,795,811 - 9,860,904 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl49,821,541 - 9,860,571 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.049,822,682 - 9,861,708 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.448,657,314 - 8,697,539 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.148,657,313 - 8,697,539 (+)NCBI
Celera48,801,513 - 8,840,481 (+)NCBICelera
Cytogenetic Map4q11NCBI
Slc26a5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554108,358,786 - 8,414,145 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554108,358,780 - 8,414,145 (-)NCBIChiLan1.0ChiLan1.0
SLC26A5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26140,227,545 - 140,305,630 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17188,497,418 - 188,575,508 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0795,363,028 - 95,437,527 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17108,088,197 - 108,178,578 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7108,088,197 - 108,178,578 (-)Ensemblpanpan1.1panPan2
SLC26A5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11816,783,795 - 16,841,946 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1816,788,759 - 16,839,940 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1816,426,732 - 16,484,887 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01817,074,350 - 17,132,490 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1817,079,270 - 17,131,472 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11816,839,580 - 16,897,324 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01816,777,413 - 16,835,901 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01817,046,210 - 17,104,115 (+)NCBIUU_Cfam_GSD_1.0
Slc26a5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511858,980,819 - 59,021,086 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647920,104,595 - 20,144,601 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647920,104,625 - 20,145,392 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC26A5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9103,378,776 - 103,453,730 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19103,382,558 - 103,420,054 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29113,990,590 - 114,062,746 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC26A5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12172,347,276 - 72,418,311 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2172,347,792 - 72,393,765 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604231,608,735 - 31,657,804 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc26a5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473925,930,221 - 25,995,828 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473925,925,835 - 25,998,410 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC26A5
227 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198999.3(SLC26A5):c.-53-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV000005607]|not provided [RCV003311651]|not specified [RCV000425160] Chr7:103421569 [GRCh38]
Chr7:103062016 [GRCh37]
Chr7:7q22.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=) single nucleotide variant not provided [RCV000728668] Chr7:103421398 [GRCh38]
Chr7:103061845 [GRCh37]
Chr7:7q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_206883.2(SLC26A5):c.293-3003A>G single nucleotide variant Lung cancer [RCV000097351] Chr7:103416115 [GRCh38]
Chr7:103056562 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV000083266] Chr7:103413015 [GRCh38]
Chr7:103053462 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV000083267] Chr7:103420821 [GRCh38]
Chr7:103061268 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.-13A>C single nucleotide variant not provided [RCV001689597]|not specified [RCV000041655] Chr7:103421527 [GRCh38]
Chr7:103061974 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_198999.3(SLC26A5):c.1233+14A>G single nucleotide variant not provided [RCV001787844]|not specified [RCV000041656] Chr7:103391608 [GRCh38]
Chr7:103032055 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_198999.3(SLC26A5):c.1311+3G>T single nucleotide variant not specified [RCV000041657] Chr7:103390426 [GRCh38]
Chr7:103030873 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) single nucleotide variant not provided [RCV000911831]|not specified [RCV000041658] Chr7:103377772 [GRCh38]
Chr7:103018219 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_206883.2(SLC26A5):c.292+8_292+9dup duplication not provided [RCV001668174]|not specified [RCV000041659] Chr7:103420728..103420729 [GRCh38]
Chr7:103061176..103061177 [GRCh37]
Chr7:7q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.403+14T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV001807768]|not provided [RCV001682739]|not specified [RCV000041660] Chr7:103412988 [GRCh38]
Chr7:103053435 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_198999.3(SLC26A5):c.498T>C (p.Asn166=) single nucleotide variant not provided [RCV001697035]|not specified [RCV000041661] Chr7:103411492 [GRCh38]
Chr7:103051939 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV002504920]|not provided [RCV000993011]|not specified [RCV000041662] Chr7:103393049 [GRCh38]
Chr7:103033496 [GRCh37]
Chr7:7q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 copy number loss See cases [RCV000050924] Chr7:101807149..112414850 [GRCh38]
Chr7:101450429..112054905 [GRCh37]
Chr7:101237149..111842141 [NCBI36]
Chr7:7q22.1-31.1		 pathogenic
GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3 copy number gain See cases [RCV000050705] Chr7:101525795..105432462 [GRCh38]
Chr7:101169076..105072909 [GRCh37]
Chr7:100955796..104860145 [NCBI36]
Chr7:7q22.1-22.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.1-22.3(chr7:101700341-105162893)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054156]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054156]|See cases [RCV000054156] Chr7:101700341..105162893 [GRCh38]
Chr7:101343621..104803340 [GRCh37]
Chr7:101130341..104590576 [NCBI36]
Chr7:7q22.1-22.3		 pathogenic
GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1 copy number loss See cases [RCV000054157] Chr7:102808199..105701108 [GRCh38]
Chr7:102448646..105341555 [GRCh37]
Chr7:102235882..105128791 [NCBI36]
Chr7:7q22.1-22.3		 pathogenic
NM_206883.2(SLC26A5):c.1908G>A (p.Gly636=) single nucleotide variant Malignant melanoma [RCV000067555] Chr7:103377677 [GRCh38]
Chr7:103018124 [GRCh37]
Chr7:102805360 [NCBI36]
Chr7:7q22.1		 not provided
NM_206883.2(SLC26A5):c.1720G>A (p.Ala574Thr) single nucleotide variant Malignant melanoma [RCV000067556] Chr7:103378511 [GRCh38]
Chr7:103018958 [GRCh37]
Chr7:102806194 [NCBI36]
Chr7:7q22.1		 not provided
NM_206883.2(SLC26A5):c.1367C>T (p.Ser456Leu) single nucleotide variant Malignant melanoma [RCV000067557] Chr7:103389369 [GRCh38]
Chr7:103029816 [GRCh37]
Chr7:102817052 [NCBI36]
Chr7:7q22.1		 not provided
GRCh38/hg38 7q22.1(chr7:103326703-103763175)x1 copy number loss See cases [RCV000133830] Chr7:103326703..103763175 [GRCh38]
Chr7:102967150..103403622 [GRCh37]
Chr7:102754386..103190858 [NCBI36]
Chr7:7q22.1		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31		 pathogenic
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) single nucleotide variant not provided [RCV000885616]|not specified [RCV000155847] Chr7:103380492 [GRCh38]
Chr7:103020939 [GRCh37]
Chr7:7q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=) single nucleotide variant not provided [RCV000887131]|not specified [RCV000151913] Chr7:103389401 [GRCh38]
Chr7:103029848 [GRCh37]
Chr7:7q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV000999789]|SLC26A5-related disorder [RCV003927467]|not provided [RCV000971218]|not specified [RCV000151914] Chr7:103421378 [GRCh38]
Chr7:103421378..103421379 [GRCh38]
Chr7:103061825 [GRCh37]
Chr7:103061825..103061826 [GRCh37]
Chr7:7q22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198999.3(SLC26A5):c.78G>A (p.Pro26=) single nucleotide variant not provided [RCV000827660]|not specified [RCV000151915] Chr7:103421437 [GRCh38]
Chr7:103061884 [GRCh37]
Chr7:7q22.1		 benign|likely benign|uncertain significance
NM_198999.3(SLC26A5):c.1457A>G (p.Tyr486Cys) single nucleotide variant not specified [RCV000151912] Chr7:103389065 [GRCh38]
Chr7:103029512 [GRCh37]
Chr7:7q22.1		 not provided
NM_198999.3(SLC26A5):c.570+6G>A single nucleotide variant not provided [RCV000975161]|not specified [RCV000155388] Chr7:103411414 [GRCh38]
Chr7:103051861 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.89A>G (p.Glu30Gly) single nucleotide variant not specified [RCV000155433] Chr7:103421426 [GRCh38]
Chr7:103061873 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1514+1G>A single nucleotide variant Nonsyndromic genetic hearing loss [RCV000155610] Chr7:103389007 [GRCh38]
Chr7:103029454 [GRCh37]
Chr7:7q22.1		 not provided
NM_198999.3(SLC26A5):c.2019T>C (p.Tyr673=) single nucleotide variant not provided [RCV002058487]|not specified [RCV000253788] Chr7:103376830 [GRCh38]
Chr7:103017277 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.-172C>G single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000271430] Chr7:103443201 [GRCh38]
Chr7:103083648 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.153-10G>A single nucleotide variant not provided [RCV000909661] Chr7:103420887 [GRCh38]
Chr7:103061334 [GRCh37]
Chr7:7q22.1		 benign|likely benign|uncertain significance
NM_198999.3(SLC26A5):c.471C>T (p.Val157=) single nucleotide variant SLC26A5-related disorder [RCV003956793] Chr7:103411519 [GRCh38]
Chr7:103051966 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_198999.3(SLC26A5):c.-157_-155del deletion Hearing loss, autosomal recessive [RCV004577907] Chr7:103443184..103443186 [GRCh38]
Chr7:103083631..103083633 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1590A>G (p.Lys530=) single nucleotide variant SLC26A5-related disorder [RCV003922585]|not provided [RCV000897246] Chr7:103379330 [GRCh38]
Chr7:103019777 [GRCh37]
Chr7:7q22.1		 benign|likely benign|uncertain significance
NM_198999.3(SLC26A5):c.1693G>A (p.Ala565Thr) single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000377468] Chr7:103378538 [GRCh38]
Chr7:103018985 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.465T>C (p.Asp155=) single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000406101] Chr7:103411525 [GRCh38]
Chr7:103051972 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.-96T>A single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000322038] Chr7:103443125 [GRCh38]
Chr7:103083572 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV002488793]|not provided [RCV000762472] Chr7:103374568 [GRCh38]
Chr7:103015015 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.518C>G (p.Ala173Gly) single nucleotide variant Inborn genetic diseases [RCV002693859] Chr7:103411472 [GRCh38]
Chr7:103051919 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1699A>G (p.Ile567Val) single nucleotide variant not provided [RCV001564494] Chr7:103378532 [GRCh38]
Chr7:103018979 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_198999.3(SLC26A5):c.1340A>G (p.Asn447Ser) single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000383034] Chr7:103389396 [GRCh38]
Chr7:103029843 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2204C>T (p.Pro735Leu) single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000263738] Chr7:103374430 [GRCh38]
Chr7:103014877 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.-74T>C single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000361472] Chr7:103443103 [GRCh38]
Chr7:103083550 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1653G>T (p.Leu551Phe) single nucleotide variant Inborn genetic diseases [RCV002723671] Chr7:103379267 [GRCh38]
Chr7:103019714 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2177C>T (p.Ala726Val) single nucleotide variant Inborn genetic diseases [RCV002539809]|not provided [RCV001732422] Chr7:103374457 [GRCh38]
Chr7:103014904 [GRCh37]
Chr7:7q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_198999.3(SLC26A5):c.775G>A (p.Val259Met) single nucleotide variant Hearing impairment [RCV001375293]|not provided [RCV000735070] Chr7:103407964 [GRCh38]
Chr7:103048411 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.*137C>T single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000393210] Chr7:103374262 [GRCh38]
Chr7:103014709 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2042-10C>T single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000260118] Chr7:103374602 [GRCh38]
Chr7:103015049 [GRCh37]
Chr7:7q22.1		 uncertain significance
Single allele single nucleotide variant not provided [RCV000315072] Chr7:103062014 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1409C>A (p.Thr470Asn) single nucleotide variant not provided [RCV000295637] Chr7:103389113 [GRCh38]
Chr7:103029560 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.-80G>A single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000266888] Chr7:103443109 [GRCh38]
Chr7:103083556 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.404-25G>T single nucleotide variant not provided [RCV001567897] Chr7:103411611 [GRCh38]
Chr7:103052058 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys) single nucleotide variant not provided [RCV000596580] Chr7:103377757 [GRCh38]
Chr7:103018204 [GRCh37]
Chr7:7q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_198999.3(SLC26A5):c.-231G>T single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000381050] Chr7:103446146 [GRCh38]
Chr7:103086593 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.472A>G (p.Ile158Val) single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000294904] Chr7:103411518 [GRCh38]
Chr7:103051965 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.*75G>A single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000367437] Chr7:103374324 [GRCh38]
Chr7:103014771 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1119+6G>C single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000288652] Chr7:103392913 [GRCh38]
Chr7:103033360 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.*92A>G single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000312755] Chr7:103374307 [GRCh38]
Chr7:103014754 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.-191C>T single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000328789] Chr7:103446106 [GRCh38]
Chr7:103086553 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2067G>T (p.Arg689=) single nucleotide variant not provided [RCV000591210] Chr7:103374567 [GRCh38]
Chr7:103015014 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.13G>C (p.Glu5Gln) single nucleotide variant not provided [RCV000757779] Chr7:103421502 [GRCh38]
Chr7:103061949 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1658G>A (p.Ser553Asn) single nucleotide variant not provided [RCV000757780] Chr7:103379262 [GRCh38]
Chr7:103019709 [GRCh37]
Chr7:7q22.1		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_198999.3(SLC26A5):c.889-5T>C single nucleotide variant not specified [RCV000426027] Chr7:103398019 [GRCh38]
Chr7:103038466 [GRCh37]
Chr7:7q22.1		 likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002803.4(PSMC2):c.325C>T (p.Pro109Ser) single nucleotide variant not provided [RCV003314088] Chr7:103361991 [GRCh38]
Chr7:103002438 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.888+8A>G single nucleotide variant not provided [RCV000598021] Chr7:103407843 [GRCh38]
Chr7:103048290 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His) single nucleotide variant Inborn genetic diseases [RCV004024767]|SLC26A5-related disorder [RCV004758707]|not provided [RCV000596540] Chr7:103377641 [GRCh38]
Chr7:103018088 [GRCh37]
Chr7:7q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1 copy number loss not provided [RCV000682896] Chr7:102910570..105104800 [GRCh37]
Chr7:7q22.1-22.3		 likely pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NM_198999.3(SLC26A5):c.735+6dup duplication not provided [RCV001546024] Chr7:103410378..103410379 [GRCh38]
Chr7:103050825..103050826 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2042-125dup duplication not provided [RCV001546065] Chr7:103374705..103374706 [GRCh38]
Chr7:103015152..103015153 [GRCh37]
Chr7:7q22.1		 likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_198999.3(SLC26A5):c.971+29G>T single nucleotide variant not provided [RCV001534401] Chr7:103397903 [GRCh38]
Chr7:103038350 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.636G>T (p.Gly212=) single nucleotide variant not provided [RCV000936423] Chr7:103410484 [GRCh38]
Chr7:103050931 [GRCh37]
Chr7:7q22.1		 likely benign|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.1515-43G>A single nucleotide variant not provided [RCV001586664] Chr7:103380592 [GRCh38]
Chr7:103021039 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.404-45A>G single nucleotide variant not provided [RCV001565262] Chr7:103411631 [GRCh38]
Chr7:103052078 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1070T>C (p.Met357Thr) single nucleotide variant not provided [RCV002001580] Chr7:103392968 [GRCh38]
Chr7:103033415 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2042-5A>G single nucleotide variant not provided [RCV000900376] Chr7:103374597 [GRCh38]
Chr7:103015044 [GRCh37]
Chr7:7q22.1		 benign|likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_198999.3(SLC26A5):c.1312-1G>C single nucleotide variant Deafness, autosomal recessive 61 [RCV000778805] Chr7:103389425 [GRCh38]
Chr7:103029872 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.448C>T (p.Arg150Ter) single nucleotide variant not provided [RCV003720356] Chr7:103411542 [GRCh38]
Chr7:103051989 [GRCh37]
Chr7:7q22.1		 pathogenic|uncertain significance
NM_198999.3(SLC26A5):c.741A>G (p.Thr247=) single nucleotide variant not provided [RCV000904062] Chr7:103407998 [GRCh38]
Chr7:103048445 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1515-44C>T single nucleotide variant not provided [RCV000835596] Chr7:103380593 [GRCh38]
Chr7:103021040 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.684T>C (p.Tyr228=) single nucleotide variant not provided [RCV000826985] Chr7:103410436 [GRCh38]
Chr7:103050883 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.864G>A (p.Ala288=) single nucleotide variant not provided [RCV000842195] Chr7:103407875 [GRCh38]
Chr7:103048322 [GRCh37]
Chr7:7q22.1		 likely benign
GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3 copy number gain not provided [RCV000847426] Chr7:102333119..103158261 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1712G>C (p.Arg571Thr) single nucleotide variant Inborn genetic diseases [RCV003239559] Chr7:103378519 [GRCh38]
Chr7:103018966 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1119+198C>T single nucleotide variant not provided [RCV001577884] Chr7:103392721 [GRCh38]
Chr7:103033168 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1515-252G>A single nucleotide variant not provided [RCV001567193] Chr7:103380801 [GRCh38]
Chr7:103021248 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.971+215del deletion not provided [RCV001673776] Chr7:103397717 [GRCh38]
Chr7:103038164 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.571-283A>G single nucleotide variant not provided [RCV001698692] Chr7:103410832 [GRCh38]
Chr7:103051279 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.971+179_971+180del deletion not provided [RCV001610048] Chr7:103397752..103397753 [GRCh38]
Chr7:103038199..103038200 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1585-163dup duplication not provided [RCV001679087] Chr7:103379483..103379484 [GRCh38]
Chr7:103019930..103019931 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1786-232A>G single nucleotide variant not provided [RCV001561010] Chr7:103378031 [GRCh38]
Chr7:103018478 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1312-44T>C single nucleotide variant not provided [RCV001637459] Chr7:103389468 [GRCh38]
Chr7:103029915 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.2184T>G (p.Pro728=) single nucleotide variant not provided [RCV001661168] Chr7:103374450 [GRCh38]
Chr7:103014897 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_198999.3(SLC26A5):c.570+86C>T single nucleotide variant not provided [RCV001717816] Chr7:103411334 [GRCh38]
Chr7:103051781 [GRCh37]
Chr7:7q22.1		 benign
NM_206883.3(SLC26A5):c.2041+2628G>T single nucleotide variant not provided [RCV001551120] Chr7:103374180 [GRCh38]
Chr7:103014627 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1234-218A>G single nucleotide variant not provided [RCV001696451] Chr7:103390724 [GRCh38]
Chr7:103031171 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.2042-85del deletion not provided [RCV001656254] Chr7:103374677 [GRCh38]
Chr7:103015124 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.403+151C>T single nucleotide variant not provided [RCV001669604] Chr7:103412851 [GRCh38]
Chr7:103053298 [GRCh37]
Chr7:7q22.1		 benign
NC_000007.14:g.103352648G>T single nucleotide variant not provided [RCV001557367] Chr7:103352648 [GRCh38]
Chr7:102993095 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1119+272C>T single nucleotide variant not provided [RCV001572526] Chr7:103392647 [GRCh38]
Chr7:103033094 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1312-76G>A single nucleotide variant not provided [RCV001650171] Chr7:103389500 [GRCh38]
Chr7:103029947 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.*28A>G single nucleotide variant not provided [RCV001558903] Chr7:103374371 [GRCh38]
Chr7:103014818 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.971+200_971+202dup duplication not provided [RCV001650721] Chr7:103397716..103397717 [GRCh38]
Chr7:103038163..103038164 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1312-17G>T single nucleotide variant not provided [RCV001592741] Chr7:103389441 [GRCh38]
Chr7:103029888 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.971+200dup duplication not provided [RCV001708266] Chr7:103397716..103397717 [GRCh38]
Chr7:103038163..103038164 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1311+295G>A single nucleotide variant not provided [RCV001657254] Chr7:103390134 [GRCh38]
Chr7:103030581 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.2041+120_2041+122del microsatellite not provided [RCV001710964] Chr7:103376686..103376688 [GRCh38]
Chr7:103017133..103017135 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.2175G>A (p.Ser725=) single nucleotide variant not provided [RCV000931692] Chr7:103374459 [GRCh38]
Chr7:103014906 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1302A>G (p.Ser434=) single nucleotide variant not provided [RCV000897025] Chr7:103390438 [GRCh38]
Chr7:103030885 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.399C>T (p.Ser133=) single nucleotide variant not provided [RCV000911183] Chr7:103413006 [GRCh38]
Chr7:103053453 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.971+283C>T single nucleotide variant not provided [RCV001561761] Chr7:103397649 [GRCh38]
Chr7:103038096 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.2079T>C (p.Phe693=) single nucleotide variant not provided [RCV001562217] Chr7:103374555 [GRCh38]
Chr7:103015002 [GRCh37]
Chr7:7q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_198999.3(SLC26A5):c.585C>T (p.Val195=) single nucleotide variant not provided [RCV001567268] Chr7:103410535 [GRCh38]
Chr7:103050982 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.972-326G>A single nucleotide variant not provided [RCV001570731] Chr7:103393392 [GRCh38]
Chr7:103033839 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.571-12dup duplication not provided [RCV001559500] Chr7:103410552..103410553 [GRCh38]
Chr7:103050999..103051000 [GRCh37]
Chr7:7q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.14:g.103352638C>T single nucleotide variant not provided [RCV001656809] Chr7:103352638 [GRCh38]
Chr7:102993085 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.2042-95dup duplication not provided [RCV001695666] Chr7:103374676..103374677 [GRCh38]
Chr7:103015123..103015124 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.972-244C>T single nucleotide variant not provided [RCV001659425] Chr7:103393310 [GRCh38]
Chr7:103033757 [GRCh37]
Chr7:7q22.1		 benign
NM_206883.3(SLC26A5):c.2041+2675T>C single nucleotide variant not provided [RCV001716548] Chr7:103374133 [GRCh38]
Chr7:103014580 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1233+292A>G single nucleotide variant not provided [RCV001659540] Chr7:103391330 [GRCh38]
Chr7:103031777 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.736-273G>C single nucleotide variant not provided [RCV001649202] Chr7:103408276 [GRCh38]
Chr7:103048723 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.888+217_888+218del microsatellite not provided [RCV001686620] Chr7:103407633..103407634 [GRCh38]
Chr7:103048080..103048081 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1312-49C>T single nucleotide variant not provided [RCV001637768] Chr7:103389473 [GRCh38]
Chr7:103029920 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.404-131A>G single nucleotide variant not provided [RCV001545152] Chr7:103411717 [GRCh38]
Chr7:103052164 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.293-318G>A single nucleotide variant not provided [RCV001673484] Chr7:103413430 [GRCh38]
Chr7:103053877 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1120-257G>A single nucleotide variant not provided [RCV001715246] Chr7:103391992 [GRCh38]
Chr7:103032439 [GRCh37]
Chr7:7q22.1		 benign
NC_000007.14:g.103352579A>G single nucleotide variant not provided [RCV001657096] Chr7:103352579 [GRCh38]
Chr7:102993026 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.735+303A>G single nucleotide variant not provided [RCV001681739] Chr7:103410082 [GRCh38]
Chr7:103050529 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1311+212G>C single nucleotide variant not provided [RCV001711015] Chr7:103390217 [GRCh38]
Chr7:103030664 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.2041+107T>C single nucleotide variant not provided [RCV001680918] Chr7:103376701 [GRCh38]
Chr7:103017148 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1514+187A>G single nucleotide variant not provided [RCV001614117] Chr7:103388821 [GRCh38]
Chr7:103029268 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.949del (p.Val317fs) deletion Autosomal recessive nonsyndromic hearing loss 61 [RCV001619766]|not provided [RCV003718417] Chr7:103397954 [GRCh38]
Chr7:103038401 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.889-85C>G single nucleotide variant not provided [RCV001690796] Chr7:103398099 [GRCh38]
Chr7:103038546 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.2041+232G>A single nucleotide variant not provided [RCV001612806] Chr7:103376576 [GRCh38]
Chr7:103017023 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1616A>G (p.Gln539Arg) single nucleotide variant Inborn genetic diseases [RCV004683627] Chr7:103379304 [GRCh38]
Chr7:103019751 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002803.4(PSMC2):c.1234G>T (p.Ala412Ser) single nucleotide variant not specified [RCV004666764] Chr7:103367986 [GRCh38]
Chr7:103008433 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.52G>A (p.Val18Met) single nucleotide variant Inborn genetic diseases [RCV004683628] Chr7:103421463 [GRCh38]
Chr7:103061910 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.28C>T (p.Leu10Phe) single nucleotide variant not provided [RCV001288433] Chr7:103421487 [GRCh38]
Chr7:103061934 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002803.4(PSMC2):c.751G>T (p.Gly251Cys) single nucleotide variant not provided [RCV001280764] Chr7:103364302 [GRCh38]
Chr7:103004749 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV001336160]|Inborn genetic diseases [RCV004035805] Chr7:103421423 [GRCh38]
Chr7:103061870 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.292+8_292+9insGA insertion Deafness, autosomal recessive 61 [RCV001286721] Chr7:103420729..103420730 [GRCh38]
Chr7:103061176..103061177 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1849C>T (p.Pro617Ser) single nucleotide variant not provided [RCV001427528] Chr7:103377736 [GRCh38]
Chr7:103018183 [GRCh37]
Chr7:7q22.1		 likely benign|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.1986+30T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV001810151]|not provided [RCV001619415] Chr7:103377569 [GRCh38]
Chr7:103018016 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1233+143G>A single nucleotide variant not provided [RCV001715489] Chr7:103391479 [GRCh38]
Chr7:103031926 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1677+77T>C single nucleotide variant not provided [RCV001527916] Chr7:103379166 [GRCh38]
Chr7:103019613 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.1244G>T (p.Cys415Phe) single nucleotide variant Inborn genetic diseases [RCV004671410]|not provided [RCV001503736] Chr7:103390496 [GRCh38]
Chr7:103030943 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_198999.3(SLC26A5):c.1678-323G>C single nucleotide variant not provided [RCV001651969] Chr7:103378876 [GRCh38]
Chr7:103019323 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.571-321A>G single nucleotide variant not provided [RCV001716554] Chr7:103410870 [GRCh38]
Chr7:103051317 [GRCh37]
Chr7:7q22.1		 benign
NM_198999.3(SLC26A5):c.972-60A>G single nucleotide variant not provided [RCV001650396] Chr7:103393126 [GRCh38]
Chr7:103033573 [GRCh37]
Chr7:7q22.1		 benign
NM_002803.4(PSMC2):c.154A>T (p.Ile52Phe) single nucleotide variant not specified [RCV004309384] Chr7:103354913 [GRCh38]
Chr7:102995360 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1299A>C (p.Glu433Asp) single nucleotide variant not provided [RCV001733099] Chr7:103390441 [GRCh38]
Chr7:103030888 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_206883.3(SLC26A5):c.2042-9101dup duplication not provided [RCV001752729] Chr7:103362026..103362027 [GRCh38]
Chr7:103002473..103002474 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1119+1G>A single nucleotide variant not provided [RCV001761093] Chr7:103392918 [GRCh38]
Chr7:103033365 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.*2T>A single nucleotide variant not provided [RCV001797258] Chr7:103374397 [GRCh38]
Chr7:103014844 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.863C>T (p.Ala288Val) single nucleotide variant not provided [RCV001874810] Chr7:103407876 [GRCh38]
Chr7:103048323 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1324G>A (p.Ala442Thr) single nucleotide variant not provided [RCV001915130] Chr7:103389412 [GRCh38]
Chr7:103029859 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1555G>A (p.Val519Met) single nucleotide variant Inborn genetic diseases [RCV004044312]|not provided [RCV001929316] Chr7:103380509 [GRCh38]
Chr7:103020956 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1907G>A (p.Gly636Glu) single nucleotide variant Inborn genetic diseases [RCV003167002]|SLC26A5-related disorder [RCV004758839]|not provided [RCV001927317] Chr7:103377678 [GRCh38]
Chr7:103018125 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1735G>A (p.Ala579Thr) single nucleotide variant not provided [RCV001964597] Chr7:103378496 [GRCh38]
Chr7:103018943 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
NM_198999.3(SLC26A5):c.1061C>A (p.Thr354Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV002490115]|not provided [RCV001892844] Chr7:103392977 [GRCh38]
Chr7:103033424 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.832T>C (p.Phe278Leu) single nucleotide variant not provided [RCV001911012] Chr7:103407907 [GRCh38]
Chr7:103048354 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160) copy number loss not specified [RCV002053712] Chr7:100676872..119156160 [GRCh37]
Chr7:7q22.1-31.31		 pathogenic
NM_198999.3(SLC26A5):c.2212A>T (p.Thr738Ser) single nucleotide variant not provided [RCV001900361] Chr7:103374422 [GRCh38]
Chr7:103014869 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.40C>A (p.Gln14Lys) single nucleotide variant not provided [RCV001977220] Chr7:103421475 [GRCh38]
Chr7:103061922 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1311+1G>T single nucleotide variant not provided [RCV002019984] Chr7:103390428 [GRCh38]
Chr7:103030875 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_198999.3(SLC26A5):c.1120-2A>G single nucleotide variant not provided [RCV001990407] Chr7:103391737 [GRCh38]
Chr7:103032184 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_198999.3(SLC26A5):c.2000A>G (p.Tyr667Cys) single nucleotide variant not provided [RCV002000257] Chr7:103376849 [GRCh38]
Chr7:103017296 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.160C>G (p.Pro54Ala) single nucleotide variant not provided [RCV001880535] Chr7:103420870 [GRCh38]
Chr7:103061317 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1572_1580del (p.Asp524_Tyr526del) deletion not provided [RCV001903852] Chr7:103380484..103380492 [GRCh38]
Chr7:103020931..103020939 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1939A>G (p.Thr647Ala) single nucleotide variant not provided [RCV002029130] Chr7:103377646 [GRCh38]
Chr7:103018093 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.860C>T (p.Pro287Leu) single nucleotide variant not provided [RCV001925627] Chr7:103407879 [GRCh38]
Chr7:103048326 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2206A>C (p.Asn736His) single nucleotide variant not provided [RCV002049614] Chr7:103374428 [GRCh38]
Chr7:103014875 [GRCh37]
Chr7:7q22.1		 uncertain significance
NC_000007.13:g.(?_102937907)_(103151472_?)dup duplication Norman-Roberts syndrome [RCV001920573] Chr7:102937907..103151472 [GRCh37]
Chr7:7q22.1		 uncertain significance
NC_000007.13:g.(?_102937907)_(103629803_?)del deletion Norman-Roberts syndrome [RCV001951338] Chr7:102937907..103629803 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.1150A>C (p.Ile384Leu) single nucleotide variant Inborn genetic diseases [RCV002555688]|not provided [RCV001937739] Chr7:103391705 [GRCh38]
Chr7:103032152 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1311+13T>C single nucleotide variant not provided [RCV002130490] Chr7:103390416 [GRCh38]
Chr7:103030863 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.888+17del deletion not provided [RCV002170107] Chr7:103407834 [GRCh38]
Chr7:103048281 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.2010C>A (p.Val670=) single nucleotide variant not provided [RCV002109394] Chr7:103376839 [GRCh38]
Chr7:103017286 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1170C>G (p.Thr390=) single nucleotide variant not provided [RCV002208624] Chr7:103391685 [GRCh38]
Chr7:103032132 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1734C>T (p.Tyr578=) single nucleotide variant not provided [RCV002089093] Chr7:103378497 [GRCh38]
Chr7:103018944 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1746C>T (p.Val582=) single nucleotide variant not provided [RCV002170426] Chr7:103378485 [GRCh38]
Chr7:103018932 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.2121T>C (p.His707=) single nucleotide variant not provided [RCV002151038] Chr7:103374513 [GRCh38]
Chr7:103014960 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.571-16C>T single nucleotide variant not provided [RCV002135376] Chr7:103410565 [GRCh38]
Chr7:103051012 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.2041+15A>G single nucleotide variant not provided [RCV002142810] Chr7:103376793 [GRCh38]
Chr7:103017240 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.152+11T>C single nucleotide variant not provided [RCV002179126] Chr7:103421352 [GRCh38]
Chr7:103061799 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1234-10T>C single nucleotide variant not provided [RCV002183147] Chr7:103390516 [GRCh38]
Chr7:103030963 [GRCh37]
Chr7:7q22.1		 likely benign
NC_000007.13:g.(?_102937907)_(107643330_?)dup duplication not provided [RCV003113939] Chr7:102937907..107643330 [GRCh37]
Chr7:7q22.1-31.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_198999.3(SLC26A5):c.790G>A (p.Val264Ile) single nucleotide variant not provided [RCV002475188] Chr7:103407949 [GRCh38]
Chr7:103048396 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2146del (p.Arg716fs) deletion Autosomal recessive nonsyndromic hearing loss 61 [RCV003234842] Chr7:103374488 [GRCh38]
Chr7:103014935 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_198999.3(SLC26A5):c.888+14G>T single nucleotide variant not provided [RCV002903172] Chr7:103407837 [GRCh38]
Chr7:103048284 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.855del (p.Lys285fs) deletion not provided [RCV002866077] Chr7:103407884 [GRCh38]
Chr7:103048331 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.1104G>T (p.Gln368His) single nucleotide variant Inborn genetic diseases [RCV002817252] Chr7:103392934 [GRCh38]
Chr7:103033381 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1441T>A (p.Phe481Ile) single nucleotide variant Inborn genetic diseases [RCV002906801] Chr7:103389081 [GRCh38]
Chr7:103029528 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.293G>C (p.Gly98Ala) single nucleotide variant not provided [RCV002754935] Chr7:103413112 [GRCh38]
Chr7:103053559 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_198999.3(SLC26A5):c.404-1G>C single nucleotide variant not provided [RCV002866605] Chr7:103411587 [GRCh38]
Chr7:103052034 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_198999.3(SLC26A5):c.1584+16A>G single nucleotide variant not provided [RCV002638895] Chr7:103380464 [GRCh38]
Chr7:103020911 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.270A>C (p.Thr90=) single nucleotide variant not provided [RCV003039452] Chr7:103420760 [GRCh38]
Chr7:103061207 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.403G>A (p.Gly135Ser) single nucleotide variant not provided [RCV002866606] Chr7:103413002 [GRCh38]
Chr7:103053449 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1905A>G (p.Pro635=) single nucleotide variant not provided [RCV002620384] Chr7:103377680 [GRCh38]
Chr7:103018127 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1986+3A>T single nucleotide variant not provided [RCV002756913] Chr7:103377596 [GRCh38]
Chr7:103018043 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1441T>C (p.Phe481Leu) single nucleotide variant Inborn genetic diseases [RCV002998336] Chr7:103389081 [GRCh38]
Chr7:103029528 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1244G>A (p.Cys415Tyr) single nucleotide variant Inborn genetic diseases [RCV002869527] Chr7:103390496 [GRCh38]
Chr7:103030943 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2008G>A (p.Val670Ile) single nucleotide variant Inborn genetic diseases [RCV002984919] Chr7:103376841 [GRCh38]
Chr7:103017288 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.892G>A (p.Val298Ile) single nucleotide variant Inborn genetic diseases [RCV002768524] Chr7:103398011 [GRCh38]
Chr7:103038458 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.467T>C (p.Ile156Thr) single nucleotide variant not provided [RCV003024064] Chr7:103411523 [GRCh38]
Chr7:103051970 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1904dup (p.Gly636fs) duplication not provided [RCV003024230] Chr7:103377680..103377681 [GRCh38]
Chr7:103018127..103018128 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.1678-12T>G single nucleotide variant not provided [RCV003055864] Chr7:103378565 [GRCh38]
Chr7:103019012 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.2161G>A (p.Glu721Lys) single nucleotide variant not provided [RCV003025921] Chr7:103374473 [GRCh38]
Chr7:103014920 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1349G>A (p.Gly450Glu) single nucleotide variant not provided [RCV003040824] Chr7:103389387 [GRCh38]
Chr7:103029834 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1219G>A (p.Gly407Ser) single nucleotide variant not provided [RCV002805454] Chr7:103391636 [GRCh38]
Chr7:103032083 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.646G>A (p.Ala216Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV004584997]|SLC26A5-related disorder [RCV004758908]|not provided [RCV002602875] Chr7:103410474 [GRCh38]
Chr7:103050921 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance
NM_198999.3(SLC26A5):c.2225C>T (p.Pro742Leu) single nucleotide variant Inborn genetic diseases [RCV002959360] Chr7:103374409 [GRCh38]
Chr7:103014856 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.723T>C (p.Phe241=) single nucleotide variant not provided [RCV002671347] Chr7:103410397 [GRCh38]
Chr7:103050844 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1218C>T (p.Thr406=) single nucleotide variant not provided [RCV003088922] Chr7:103391637 [GRCh38]
Chr7:103032084 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1044C>T (p.Ile348=) single nucleotide variant not provided [RCV002988833] Chr7:103392994 [GRCh38]
Chr7:103033441 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1871C>G (p.Thr624Arg) single nucleotide variant Inborn genetic diseases [RCV002703001] Chr7:103377714 [GRCh38]
Chr7:103018161 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.27C>G (p.Ile9Met) single nucleotide variant not provided [RCV002580184] Chr7:103421488 [GRCh38]
Chr7:103061935 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002803.4(PSMC2):c.302T>C (p.Ile101Thr) single nucleotide variant not specified [RCV004130430] Chr7:103361968 [GRCh38]
Chr7:103002415 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.993G>A (p.Pro331=) single nucleotide variant not provided [RCV003091469] Chr7:103393045 [GRCh38]
Chr7:103033492 [GRCh37]
Chr7:7q22.1		 likely benign
NM_002803.4(PSMC2):c.119C>G (p.Thr40Ser) single nucleotide variant not specified [RCV004217314] Chr7:103354878 [GRCh38]
Chr7:102995325 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1784C>A (p.Ala595Glu) single nucleotide variant Inborn genetic diseases [RCV002723919] Chr7:103378447 [GRCh38]
Chr7:103018894 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.642C>T (p.Thr214=) single nucleotide variant not provided [RCV002633203] Chr7:103410478 [GRCh38]
Chr7:103050925 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1322C>T (p.Ser441Leu) single nucleotide variant not provided [RCV003072819] Chr7:103389414 [GRCh38]
Chr7:103029861 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2041+19T>A single nucleotide variant not provided [RCV002586412] Chr7:103376789 [GRCh38]
Chr7:103017236 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.2110C>T (p.His704Tyr) single nucleotide variant Inborn genetic diseases [RCV003287104] Chr7:103374524 [GRCh38]
Chr7:103014971 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1399A>G (p.Ile467Val) single nucleotide variant Inborn genetic diseases [RCV003185905] Chr7:103389337 [GRCh38]
Chr7:103029784 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV003136757] Chr7:103377649 [GRCh38]
Chr7:103018096 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2221A>G (p.Thr741Ala) single nucleotide variant Inborn genetic diseases [RCV003210097] Chr7:103374413 [GRCh38]
Chr7:103014860 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.475C>T (p.Pro159Ser) single nucleotide variant Inborn genetic diseases [RCV003360037] Chr7:103411515 [GRCh38]
Chr7:103051962 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002803.4(PSMC2):c.1192A>C (p.Arg398=) single nucleotide variant not provided [RCV003423723] Chr7:103367944 [GRCh38]
Chr7:103008391 [GRCh37]
Chr7:7q22.1		 likely benign
NM_206883.3(SLC26A5):c.2042-10423T>C single nucleotide variant not provided [RCV003423722] Chr7:103363349 [GRCh38]
Chr7:103003796 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1355T>G (p.Phe452Cys) single nucleotide variant Inborn genetic diseases [RCV003364830] Chr7:103389381 [GRCh38]
Chr7:103029828 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1111G>A (p.Gly371Ser) single nucleotide variant Inborn genetic diseases [RCV003364121] Chr7:103392927 [GRCh38]
Chr7:103033374 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.887C>T (p.Ala296Val) single nucleotide variant Inborn genetic diseases [RCV003350374] Chr7:103407852 [GRCh38]
Chr7:103048299 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2065C>T (p.Arg689Trp) single nucleotide variant not provided [RCV003481854] Chr7:103374569 [GRCh38]
Chr7:103015016 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1986+1G>A single nucleotide variant not provided [RCV003570652] Chr7:103377598 [GRCh38]
Chr7:103018045 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_198999.3(SLC26A5):c.108_109del (p.Asp36fs) deletion not provided [RCV003569959] Chr7:103421406..103421407 [GRCh38]
Chr7:103061853..103061854 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.706C>T (p.Arg236Trp) single nucleotide variant not provided [RCV003481856] Chr7:103410414 [GRCh38]
Chr7:103050861 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3 copy number gain not provided [RCV003484695] Chr7:102668567..103242665 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.876A>G (p.Leu292=) single nucleotide variant not provided [RCV003828014] Chr7:103407863 [GRCh38]
Chr7:103048310 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.571-18G>T single nucleotide variant not provided [RCV003877265] Chr7:103410567 [GRCh38]
Chr7:103051014 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.960A>C (p.Thr320=) single nucleotide variant not provided [RCV003835250] Chr7:103397943 [GRCh38]
Chr7:103038390 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.152+20G>T single nucleotide variant not provided [RCV003852180] Chr7:103421343 [GRCh38]
Chr7:103061790 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1812T>C (p.Ala604=) single nucleotide variant not provided [RCV003580146] Chr7:103377773 [GRCh38]
Chr7:103018220 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1408-13G>A single nucleotide variant not provided [RCV003840159] Chr7:103389127 [GRCh38]
Chr7:103029574 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.818T>A (p.Leu273Ter) single nucleotide variant not provided [RCV003673062] Chr7:103407921 [GRCh38]
Chr7:103048368 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.891C>T (p.Val297=) single nucleotide variant not provided [RCV003734329] Chr7:103398012 [GRCh38]
Chr7:103038459 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.2122del (p.Asp708fs) deletion not provided [RCV003670796] Chr7:103374512 [GRCh38]
Chr7:103014959 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.51T>G (p.Tyr17Ter) single nucleotide variant not provided [RCV003824315] Chr7:103421464 [GRCh38]
Chr7:103061911 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.1110C>T (p.Asp370=) single nucleotide variant not provided [RCV003859466] Chr7:103392928 [GRCh38]
Chr7:103033375 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.672C>T (p.Ser224=) single nucleotide variant not provided [RCV003727174] Chr7:103410448 [GRCh38]
Chr7:103050895 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1119+15T>G single nucleotide variant not provided [RCV003869420] Chr7:103392904 [GRCh38]
Chr7:103033351 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1515-1G>A single nucleotide variant not provided [RCV003704107] Chr7:103380550 [GRCh38]
Chr7:103020997 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_198999.3(SLC26A5):c.726C>T (p.Ser242=) single nucleotide variant not provided [RCV003857412] Chr7:103410394 [GRCh38]
Chr7:103050841 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1312-1G>A single nucleotide variant not provided [RCV003679628] Chr7:103389425 [GRCh38]
Chr7:103029872 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_198999.3(SLC26A5):c.2010C>T (p.Val670=) single nucleotide variant not provided [RCV003720341] Chr7:103376839 [GRCh38]
Chr7:103017286 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1915G>A (p.Val639Ile) single nucleotide variant not provided [RCV003819718] Chr7:103377670 [GRCh38]
Chr7:103018117 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1311+20G>A single nucleotide variant not provided [RCV003823508] Chr7:103390409 [GRCh38]
Chr7:103030856 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.329dup (p.Phe111fs) duplication not provided [RCV003856987] Chr7:103413075..103413076 [GRCh38]
Chr7:103053522..103053523 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_198999.3(SLC26A5):c.1120-11A>G single nucleotide variant not provided [RCV003841187] Chr7:103391746 [GRCh38]
Chr7:103032193 [GRCh37]
Chr7:7q22.1		 likely benign
NM_198999.3(SLC26A5):c.1214G>A (p.Gly405Glu) single nucleotide variant SLC26A5-related disorder [RCV003951468] Chr7:103391641 [GRCh38]
Chr7:103032088 [GRCh37]
Chr7:7q22.1		 likely benign
NM_002803.4(PSMC2):c.187A>G (p.Thr63Ala) single nucleotide variant not specified [RCV004513311] Chr7:103354946 [GRCh38]
Chr7:102995393 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.571-4del deletion SLC26A5-related disorder [RCV003954734] Chr7:103410553 [GRCh38]
Chr7:103051000 [GRCh37]
Chr7:7q22.1		 likely benign
NM_002803.4(PSMC2):c.1031G>A (p.Ser344Asn) single nucleotide variant not specified [RCV004513310] Chr7:103367599 [GRCh38]
Chr7:103008046 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1768G>A (p.Ala590Thr) single nucleotide variant Inborn genetic diseases [RCV004456679] Chr7:103378463 [GRCh38]
Chr7:103018910 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.104A>G (p.Lys35Arg) single nucleotide variant Inborn genetic diseases [RCV004456677] Chr7:103421411 [GRCh38]
Chr7:103061858 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1963G>A (p.Val655Ile) single nucleotide variant Inborn genetic diseases [RCV004456681] Chr7:103377622 [GRCh38]
Chr7:103018069 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1539G>T (p.Lys513Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 61 [RCV004585172]|Inborn genetic diseases [RCV004674026] Chr7:103380525 [GRCh38]
Chr7:103020972 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1789G>A (p.Ala597Thr) single nucleotide variant Inborn genetic diseases [RCV004456680] Chr7:103377796 [GRCh38]
Chr7:103018243 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.2168A>G (p.Glu723Gly) single nucleotide variant Inborn genetic diseases [RCV004456682] Chr7:103374466 [GRCh38]
Chr7:103014913 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.517G>A (p.Ala173Thr) single nucleotide variant Inborn genetic diseases [RCV004456683] Chr7:103411473 [GRCh38]
Chr7:103051920 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.930A>C (p.Lys310Asn) single nucleotide variant Inborn genetic diseases [RCV004456684] Chr7:103397973 [GRCh38]
Chr7:103038420 [GRCh37]
Chr7:7q22.1		 uncertain significance
NC_000007.13:g.(?_102937907)_(108155935_?)del deletion not provided [RCV004583601] Chr7:102937907..108155935 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
NM_198999.3(SLC26A5):c.1871C>T (p.Thr624Ile) single nucleotide variant Inborn genetic diseases [RCV004672393] Chr7:103377714 [GRCh38]
Chr7:103018161 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.538A>G (p.Met180Val) single nucleotide variant Inborn genetic diseases [RCV004672392] Chr7:103411452 [GRCh38]
Chr7:103051899 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.824G>A (p.Gly275Asp) single nucleotide variant Inborn genetic diseases [RCV004672389] Chr7:103407915 [GRCh38]
Chr7:103048362 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.895A>T (p.Met299Leu) single nucleotide variant Inborn genetic diseases [RCV004672390] Chr7:103398008 [GRCh38]
Chr7:103038455 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_198999.3(SLC26A5):c.1040C>A (p.Ala347Asp) single nucleotide variant SLC26A5-related disorder [RCV004732356] Chr7:103392998 [GRCh38]
Chr7:103033445 [GRCh37]
Chr7:7q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3418
Count of miRNA genes:790
Interacting mature miRNAs:915
Transcripts:ENST00000306312, ENST00000339444, ENST00000354356, ENST00000356767, ENST00000393723, ENST00000393727, ENST00000393729, ENST00000393730, ENST00000393735, ENST00000423416, ENST00000432958, ENST00000445809, ENST00000454864, ENST00000456463, ENST00000487407
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407407144GWAS1056120_Hurate measurement, bone density QTL GWAS1056120 (human)3e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)7103389781103389782Human
407191047GWAS840023_Hnormal QTL GWAS840023 (human)1e-11hearing loss7103421378103421379Human
407403994GWAS1052970_Hurate measurement, bone density QTL GWAS1052970 (human)9e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)7103389781103389782Human
407312626GWAS961602_Hage-related hearing impairment QTL GWAS961602 (human)7e-12age-related hearing impairment7103411631103411632Human
407312623GWAS961599_Hage-related hearing impairment QTL GWAS961599 (human)3e-14age-related hearing impairment7103421378103421379Human
407008601GWAS657577_Hneuroticism measurement, wellbeing measurement, depressive symptom measurement QTL GWAS657577 (human)0.0000002neuroticism measurement, wellbeing measurement, depressive symptom measurement7103430746103430747Human
407218782GWAS867758_Hchronotype measurement QTL GWAS867758 (human)8e-09chronotype measurement7103366166103366167Human
407007839GWAS656815_Hchronotype measurement QTL GWAS656815 (human)7e-22chronotype measurement7103424359103424360Human
406891919GWAS540895_Hcircadian rhythm QTL GWAS540895 (human)0.000002circadian rhythm7103426329103426330Human
407207098GWAS856074_Hage-related hearing impairment QTL GWAS856074 (human)2e-13age-related hearing impairment7103421378103421379Human
407302297GWAS951273_Hhearing loss QTL GWAS951273 (human)3e-11hearing loss7103421378103421379Human

Markers in Region
SGC32632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377103,008,459 - 103,008,591UniSTSGRCh37
Build 367102,795,695 - 102,795,827RGDNCBI36
Celera797,815,676 - 97,815,808RGD
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7q22.1-q22.3UniSTS
HuRef797,370,959 - 97,371,091UniSTS
CRA_TCAGchr7v27102,368,825 - 102,368,957UniSTS
GeneMap99-GB4 RH Map7522.18UniSTS
Whitehead-RH Map7491.1UniSTS
B296YE5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377103,033,947 - 103,034,187UniSTSGRCh37
Build 367102,821,183 - 102,821,423RGDNCBI36
Celera797,840,272 - 97,840,510RGD
Cytogenetic Map7q22.1UniSTS
HuRef797,394,391 - 97,394,629UniSTS
CRA_TCAGchr7v27102,394,313 - 102,394,553UniSTS
Whitehead-RH Map7491.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
RH11504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377103,008,370 - 103,008,515UniSTSGRCh37
Build 367102,795,606 - 102,795,751RGDNCBI36
Celera797,815,587 - 97,815,732RGD
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7q22.1-q22.3UniSTS
HuRef797,370,870 - 97,371,015UniSTS
CRA_TCAGchr7v27102,368,736 - 102,368,881UniSTS
GeneMap99-GB4 RH Map7522.11UniSTS
RH69239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377103,008,953 - 103,009,097UniSTSGRCh37
Build 367102,796,189 - 102,796,333RGDNCBI36
Celera797,816,170 - 97,816,314RGD
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7q22.1-q22.3UniSTS
HuRef797,371,453 - 97,371,597UniSTS
CRA_TCAGchr7v27102,369,319 - 102,369,463UniSTS
GeneMap99-GB4 RH Map7521.67UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2343 2734 2142 4794 1661 2223 2 573 1539 412 2211 6516 5931 13 3601 754 1663 1544 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF523354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY256823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY256824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY256825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY289133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY289134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA197655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000306312   ⟹   ENSP00000304783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,207 - 103,446,207 (-)Ensembl
Ensembl Acc Id: ENST00000339444   ⟹   ENSP00000342396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,352,730 - 103,446,151 (-)Ensembl
Ensembl Acc Id: ENST00000354356   ⟹   ENSP00000346325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,216 - 103,446,177 (-)Ensembl
Ensembl Acc Id: ENST00000356767   ⟹   ENSP00000349210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,352,730 - 103,446,151 (-)Ensembl
Ensembl Acc Id: ENST00000393723   ⟹   ENSP00000377324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,378 - 103,421,522 (-)Ensembl
Ensembl Acc Id: ENST00000393727   ⟹   ENSP00000377328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,378 - 103,421,522 (-)Ensembl
Ensembl Acc Id: ENST00000393729   ⟹   ENSP00000377330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,266 - 103,443,194 (-)Ensembl
Ensembl Acc Id: ENST00000393730   ⟹   ENSP00000377331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,207 - 103,443,196 (-)Ensembl
Ensembl Acc Id: ENST00000393735   ⟹   ENSP00000377336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,352,730 - 103,446,151 (-)Ensembl
Ensembl Acc Id: ENST00000423416   ⟹   ENSP00000389018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,261 - 103,443,196 (-)Ensembl
Ensembl Acc Id: ENST00000432958   ⟹   ENSP00000389733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,212 - 103,446,177 (-)Ensembl
Ensembl Acc Id: ENST00000445809   ⟹   ENSP00000396833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,207 - 103,443,196 (-)Ensembl
Ensembl Acc Id: ENST00000454864   ⟹   ENSP00000416502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,207 - 103,443,196 (-)Ensembl
Ensembl Acc Id: ENST00000456463   ⟹   ENSP00000395568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,374,266 - 103,443,194 (-)Ensembl
Ensembl Acc Id: ENST00000487407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7103,388,523 - 103,446,177 (-)Ensembl
RefSeq Acc Id: NM_001167962   ⟹   NP_001161434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,374,207 - 103,446,207 (-)NCBI
GRCh377102,993,177 - 103,086,624 (-)ENTREZGENE
HuRef797,355,533 - 97,447,053 (-)ENTREZGENE
CHM1_17102,947,966 - 103,019,937 (-)NCBI
T2T-CHM13v2.07104,688,657 - 104,760,648 (-)NCBI
CRA_TCAGchr7v27102,353,543 - 102,447,443 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001321787   ⟹   NP_001308716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,352,730 - 103,446,207 (-)NCBI
CHM1_17102,926,169 - 103,019,937 (-)NCBI
T2T-CHM13v2.07104,667,171 - 104,760,648 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198999   ⟹   NP_945350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,374,207 - 103,446,207 (-)NCBI
GRCh377102,993,177 - 103,086,624 (-)ENTREZGENE
Build 367102,801,890 - 102,873,834 (-)NCBI Archive
HuRef797,355,533 - 97,447,053 (-)ENTREZGENE
CHM1_17102,947,966 - 103,019,937 (-)NCBI
T2T-CHM13v2.07104,688,657 - 104,760,648 (-)NCBI
CRA_TCAGchr7v27102,353,543 - 102,447,443 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_206883   ⟹   NP_996766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,352,730 - 103,446,207 (-)NCBI
GRCh377102,993,177 - 103,086,624 (-)ENTREZGENE
Build 367102,780,413 - 102,873,834 (-)NCBI Archive
HuRef797,355,533 - 97,447,053 (-)ENTREZGENE
CHM1_17102,926,169 - 103,019,937 (-)NCBI
T2T-CHM13v2.07104,667,171 - 104,760,648 (-)NCBI
CRA_TCAGchr7v27102,353,543 - 102,447,443 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_206884   ⟹   NP_996767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,352,730 - 103,446,207 (-)NCBI
GRCh377102,993,177 - 103,086,624 (-)ENTREZGENE
Build 367102,780,413 - 102,873,834 (-)NCBI Archive
HuRef797,355,533 - 97,447,053 (-)ENTREZGENE
CHM1_17102,926,169 - 103,019,937 (-)NCBI
T2T-CHM13v2.07104,667,171 - 104,760,648 (-)NCBI
CRA_TCAGchr7v27102,353,543 - 102,447,443 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_206885   ⟹   NP_996768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,352,730 - 103,446,207 (-)NCBI
GRCh377102,993,177 - 103,086,624 (-)ENTREZGENE
Build 367102,780,413 - 102,873,834 (-)NCBI Archive
HuRef797,355,533 - 97,447,053 (-)ENTREZGENE
CHM1_17102,926,169 - 103,019,937 (-)NCBI
T2T-CHM13v2.07104,667,171 - 104,760,648 (-)NCBI
CRA_TCAGchr7v27102,353,543 - 102,447,443 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_120441
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,374,207 - 103,443,211 (-)NCBI
CHM1_17102,947,966 - 103,016,971 (-)NCBI
T2T-CHM13v2.07104,688,657 - 104,757,652 (-)NCBI
Sequence:
RefSeq Acc Id: NR_120442
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,374,207 - 103,443,211 (-)NCBI
CHM1_17102,947,966 - 103,016,971 (-)NCBI
T2T-CHM13v2.07104,688,657 - 104,757,652 (-)NCBI
Sequence:
RefSeq Acc Id: NR_120443
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,374,207 - 103,443,211 (-)NCBI
CHM1_17102,947,966 - 103,016,971 (-)NCBI
T2T-CHM13v2.07104,688,657 - 104,757,652 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135801
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,374,207 - 103,446,207 (-)NCBI
CHM1_17102,947,966 - 103,019,937 (-)NCBI
T2T-CHM13v2.07104,688,657 - 104,760,648 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135802
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,352,730 - 103,446,207 (-)NCBI
CHM1_17102,926,169 - 103,019,937 (-)NCBI
T2T-CHM13v2.07104,667,171 - 104,760,648 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516170   ⟹   XP_011514472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,374,207 - 103,446,052 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420347   ⟹   XP_047276303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,379,253 - 103,446,207 (-)NCBI
RefSeq Acc Id: XM_054358167   ⟹   XP_054214142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07104,693,703 - 104,760,648 (-)NCBI
RefSeq Acc Id: XR_007060034
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,389,341 - 103,446,207 (-)NCBI
RefSeq Acc Id: XR_008487614
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07104,703,793 - 104,760,648 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001161434 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308716 (Get FASTA)   NCBI Sequence Viewer  
  NP_945350 (Get FASTA)   NCBI Sequence Viewer  
  NP_996766 (Get FASTA)   NCBI Sequence Viewer  
  NP_996767 (Get FASTA)   NCBI Sequence Viewer  
  NP_996768 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514472 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276303 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214142 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI00833 (Get FASTA)   NCBI Sequence Viewer  
  AAI00834 (Get FASTA)   NCBI Sequence Viewer  
  AAI00835 (Get FASTA)   NCBI Sequence Viewer  
  AAI00836 (Get FASTA)   NCBI Sequence Viewer  
  AAP31417 (Get FASTA)   NCBI Sequence Viewer  
  AAP31532 (Get FASTA)   NCBI Sequence Viewer  
  AAP31533 (Get FASTA)   NCBI Sequence Viewer  
  AAP31534 (Get FASTA)   NCBI Sequence Viewer  
  AAP43685 (Get FASTA)   NCBI Sequence Viewer  
  AAP43686 (Get FASTA)   NCBI Sequence Viewer  
  EAW83334 (Get FASTA)   NCBI Sequence Viewer  
  EAW83335 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000304783
  ENSP00000304783.3
  ENSP00000342396
  ENSP00000342396.6
  ENSP00000349210
  ENSP00000349210.4
  ENSP00000377324.1
  ENSP00000377328.1
  ENSP00000377330.1
  ENSP00000377331.1
  ENSP00000377336
  ENSP00000377336.2
  ENSP00000389018.1
  ENSP00000389733
  ENSP00000389733.2
  ENSP00000395568.1
  ENSP00000396833.1
  ENSP00000416502.1
GenBank Protein P58743 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_996768   ⟸   NM_206885
- Peptide Label: isoform d
- UniProtKB: P58743 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_996766   ⟸   NM_206883
- Peptide Label: isoform b
- UniProtKB: Q7Z7F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996767   ⟸   NM_206884
- Peptide Label: isoform c
- UniProtKB: Q496J3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161434   ⟸   NM_001167962
- Peptide Label: isoform e
- UniProtKB: Q7Z7F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_945350   ⟸   NM_198999
- Peptide Label: isoform a
- UniProtKB: Q86UG0 (UniProtKB/Swiss-Prot),   Q86UF9 (UniProtKB/Swiss-Prot),   Q86UF8 (UniProtKB/Swiss-Prot),   Q7Z7F3 (UniProtKB/Swiss-Prot),   Q496J2 (UniProtKB/Swiss-Prot),   P58743 (UniProtKB/Swiss-Prot),   Q7Z7F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514472   ⟸   XM_011516170
- Peptide Label: isoform X2
- UniProtKB: Q86UG0 (UniProtKB/Swiss-Prot),   Q86UF9 (UniProtKB/Swiss-Prot),   Q86UF8 (UniProtKB/Swiss-Prot),   Q7Z7F3 (UniProtKB/Swiss-Prot),   Q496J2 (UniProtKB/Swiss-Prot),   P58743 (UniProtKB/Swiss-Prot),   Q7Z7F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308716   ⟸   NM_001321787
- Peptide Label: isoform f
- UniProtKB: Q7Z7F4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000389018   ⟸   ENST00000423416
Ensembl Acc Id: ENSP00000304783   ⟸   ENST00000306312
Ensembl Acc Id: ENSP00000416502   ⟸   ENST00000454864
Ensembl Acc Id: ENSP00000395568   ⟸   ENST00000456463
Ensembl Acc Id: ENSP00000342396   ⟸   ENST00000339444
Ensembl Acc Id: ENSP00000396833   ⟸   ENST00000445809
Ensembl Acc Id: ENSP00000377328   ⟸   ENST00000393727
Ensembl Acc Id: ENSP00000377330   ⟸   ENST00000393729
Ensembl Acc Id: ENSP00000377324   ⟸   ENST00000393723
Ensembl Acc Id: ENSP00000377336   ⟸   ENST00000393735
Ensembl Acc Id: ENSP00000377331   ⟸   ENST00000393730
Ensembl Acc Id: ENSP00000346325   ⟸   ENST00000354356
Ensembl Acc Id: ENSP00000389733   ⟸   ENST00000432958
Ensembl Acc Id: ENSP00000349210   ⟸   ENST00000356767
RefSeq Acc Id: XP_047276303   ⟸   XM_047420347
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214142   ⟸   XM_054358167
- Peptide Label: isoform X1
Protein Domains
SLC26A/SulP transporter   STAS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58743-F1-model_v2 AlphaFold P58743 1-744 view protein structure

Promoters
RGD ID:7211571
Promoter ID:EPDNEW_H11530
Type:initiation region
Name:SLC26A5_1
Description:solute carrier family 26 member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387103,446,167 - 103,446,227EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9359 AgrOrtholog
COSMIC SLC26A5 COSMIC
Ensembl Genes ENSG00000170615 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306312 ENTREZGENE
  ENST00000306312.8 UniProtKB/Swiss-Prot
  ENST00000339444 ENTREZGENE
  ENST00000339444.10 UniProtKB/Swiss-Prot
  ENST00000356767 ENTREZGENE
  ENST00000356767.8 UniProtKB/Swiss-Prot
  ENST00000393723.2 UniProtKB/Swiss-Prot
  ENST00000393727.5 UniProtKB/TrEMBL
  ENST00000393729.5 UniProtKB/TrEMBL
  ENST00000393730.5 UniProtKB/Swiss-Prot
  ENST00000393735 ENTREZGENE
  ENST00000393735.6 UniProtKB/Swiss-Prot
  ENST00000423416 ENTREZGENE
  ENST00000423416.5 UniProtKB/TrEMBL
  ENST00000432958 ENTREZGENE
  ENST00000432958.6 UniProtKB/Swiss-Prot
  ENST00000445809 ENTREZGENE
  ENST00000445809.5 UniProtKB/TrEMBL
  ENST00000454864 ENTREZGENE
  ENST00000454864.5 UniProtKB/TrEMBL
  ENST00000456463.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.750.24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170615 GTEx
HGNC ID HGNC:9359 ENTREZGENE
Human Proteome Map SLC26A5 Human Proteome Map
InterPro S04_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC26A/SulP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC26A/SulP_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAS_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:375611 UniProtKB/Swiss-Prot
NCBI Gene SLC26A5 ENTREZGENE
OMIM 604943 OMIM
PANTHER PTHR11814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11814:SF32 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam STAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfate_transp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33731 PharmGKB
PROSITE SLC26A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52091 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PCM2_HUMAN UniProtKB/TrEMBL
  F8WD50_HUMAN UniProtKB/TrEMBL
  F8WDL4_HUMAN UniProtKB/TrEMBL
  P58743 ENTREZGENE
  Q496J0_HUMAN UniProtKB/TrEMBL
  Q496J1_HUMAN UniProtKB/TrEMBL
  Q496J2 ENTREZGENE
  Q496J3 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z7F3 ENTREZGENE
  Q7Z7F4 ENTREZGENE, UniProtKB/TrEMBL
  Q86UF8 ENTREZGENE
  Q86UF9 ENTREZGENE
  Q86UG0 ENTREZGENE
  S26A5_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q496J2 UniProtKB/Swiss-Prot
  Q7Z7F3 UniProtKB/Swiss-Prot
  Q86UF8 UniProtKB/Swiss-Prot
  Q86UF9 UniProtKB/Swiss-Prot
  Q86UG0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC26A5  solute carrier family 26 member 5    solute carrier family 26 (anion exchanger), member 5  Symbol and/or name change 5135510 APPROVED
2016-02-25 SLC26A5  solute carrier family 26 (anion exchanger), member 5  PRES  prestin (motor protein)  Data merged from RGD:736364 737654 PROVISIONAL
2013-07-23 SLC26A5  solute carrier family 26 (anion exchanger), member 5    solute carrier family 26, member 5 (prestin)  Symbol and/or name change 5135510 APPROVED