RDX (radixin) - Rat Genome Database

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Gene: RDX (radixin) Homo sapiens
Analyze
Symbol: RDX
Name: radixin
RGD ID: 1348654
HGNC Page HGNC
Description: Enables ATPase binding activity and actin binding activity. Involved in several processes, including negative regulation of GTPase activity; positive regulation of macromolecule metabolic process; and regulation of organelle organization. Located in apical plasma membrane. Colocalizes with focal adhesion. Implicated in autosomal recessive nonsyndromic deafness 24.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: deafness, autosomal recessive 24; DFNB24
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RDXP1   RDXP2   RDXP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11109,864,295 - 110,296,712 (-)EnsemblGRCh38hg38GRCh38
GRCh3811110,174,922 - 110,296,614 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711110,045,647 - 110,167,339 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611109,605,376 - 109,672,647 (-)NCBINCBI36hg18NCBI36
Build 3411109,605,381 - 109,655,644NCBI
Celera11107,253,634 - 107,320,905 (-)NCBI
Cytogenetic Map11q22.3NCBI
HuRef11105,970,010 - 106,091,683 (-)NCBIHuRef
CHM1_111109,928,800 - 110,050,624 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (EXP,ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diuron  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
hydrazine  (ISO)
hypochlorous acid  (ISO)
isoflavones  (EXP)
ivermectin  (EXP)
lycopene  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
microcystin-LR  (ISO)
naphthalene  (ISO)
nitric oxide  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
tanespimycin  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
uranium atom  (EXP)
vinclozolin  (ISO)
Y-27632  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1429901   PMID:8486357   PMID:8858161   PMID:8889548   PMID:9184664   PMID:9287351   PMID:9348291   PMID:9430655   PMID:9456324   PMID:9472040   PMID:9501018   PMID:9681826  
PMID:10806479   PMID:10816569   PMID:11375520   PMID:12068294   PMID:12070130   PMID:12226091   PMID:12360288   PMID:12385025   PMID:12477932   PMID:12499563   PMID:12522145   PMID:12734202  
PMID:14499480   PMID:14568249   PMID:15096511   PMID:15149851   PMID:15178693   PMID:15252013   PMID:15313460   PMID:15489334   PMID:15818415   PMID:15840729   PMID:16502470   PMID:16582480  
PMID:16889625   PMID:17226784   PMID:17237445   PMID:17321526   PMID:17349711   PMID:17515952   PMID:17725603   PMID:17825285   PMID:18029348   PMID:18295815   PMID:18941185   PMID:19056867  
PMID:19124745   PMID:19129194   PMID:19152423   PMID:19199708   PMID:19215054   PMID:19255442   PMID:19322201   PMID:19615732   PMID:19754948   PMID:19830727   PMID:19890007   PMID:20301607  
PMID:20458337   PMID:20679347   PMID:20855527   PMID:21047789   PMID:21148287   PMID:21160029   PMID:21182205   PMID:21278069   PMID:21278261   PMID:21282464   PMID:21352885   PMID:21423176  
PMID:21659656   PMID:21837648   PMID:21864676   PMID:21873635   PMID:22089331   PMID:22132106   PMID:22179828   PMID:22291017   PMID:22467863   PMID:22469515   PMID:22631643   PMID:22658674  
PMID:22685202   PMID:22863883   PMID:22891241   PMID:22939629   PMID:23116763   PMID:23264465   PMID:23326330   PMID:23414517   PMID:23503679   PMID:23533145   PMID:23602568   PMID:23703860  
PMID:23729486   PMID:24380686   PMID:24457600   PMID:24684796   PMID:24760896   PMID:24788249   PMID:24854655   PMID:24933454   PMID:25163515   PMID:25286001   PMID:25468996   PMID:25520109  
PMID:25575591   PMID:25921289   PMID:26209696   PMID:26344197   PMID:26389662   PMID:26496610   PMID:26500117   PMID:26555866   PMID:26618866   PMID:27029001   PMID:27684187   PMID:27793041  
PMID:27855404   PMID:28514442   PMID:28515276   PMID:28695742   PMID:28889652   PMID:29117863   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29859926   PMID:29987050   PMID:30021884  
PMID:30463901   PMID:30809309   PMID:30948266   PMID:31018575   PMID:31250571   PMID:31300519   PMID:31353912   PMID:31382374   PMID:31586073   PMID:31843195   PMID:32098334   PMID:32160548  
PMID:32203420   PMID:32353859   PMID:32774516   PMID:32780723   PMID:32807901   PMID:33022573   PMID:33060197   PMID:33194618   PMID:33361775   PMID:33916271   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
RDX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11109,864,295 - 110,296,712 (-)EnsemblGRCh38hg38GRCh38
GRCh3811110,174,922 - 110,296,614 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711110,045,647 - 110,167,339 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611109,605,376 - 109,672,647 (-)NCBINCBI36hg18NCBI36
Build 3411109,605,381 - 109,655,644NCBI
Celera11107,253,634 - 107,320,905 (-)NCBI
Cytogenetic Map11q22.3NCBI
HuRef11105,970,010 - 106,091,683 (-)NCBIHuRef
CHM1_111109,928,800 - 110,050,624 (-)NCBICHM1_1
Rdx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39951,958,450 - 52,000,038 (+)NCBIGRCm39mm39
GRCm39 Ensembl951,958,473 - 52,011,763 (+)Ensembl
GRCm38952,047,150 - 52,088,738 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl952,047,173 - 52,100,463 (+)EnsemblGRCm38mm10GRCm38
MGSCv37951,855,255 - 51,896,843 (+)NCBIGRCm37mm9NCBIm37
MGSCv36951,800,692 - 51,841,101 (+)NCBImm8
Celera949,323,161 - 49,364,735 (+)NCBICelera
Cytogenetic Map9A5.3NCBI
Rdx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2852,379,494 - 52,437,673 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl852,379,494 - 52,437,678 (+)Ensembl
Rnor_6.0856,570,728 - 56,612,851 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl856,585,396 - 56,610,612 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0855,152,377 - 55,194,097 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4855,404,000 - 55,450,183 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1855,423,053 - 55,469,236 (+)NCBI
Celera851,903,656 - 51,946,436 (+)NCBICelera
Cytogenetic Map8q24NCBI
Rdx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541212,100,359 - 12,172,545 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541212,100,436 - 12,184,444 (-)NCBIChiLan1.0ChiLan1.0
RDX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111108,921,477 - 109,005,557 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11108,921,477 - 109,005,557 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011105,075,716 - 105,176,660 (-)NCBIMhudiblu_PPA_v0panPan3
RDX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1522,555,913 - 22,642,822 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl522,571,286 - 22,642,811 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha522,474,394 - 22,561,935 (+)NCBI
ROS_Cfam_1.0522,581,249 - 22,668,985 (+)NCBI
UMICH_Zoey_3.1522,639,826 - 22,727,131 (+)NCBI
UNSW_CanFamBas_1.0522,539,744 - 22,627,628 (+)NCBI
UU_Cfam_GSD_1.0522,589,215 - 22,677,042 (+)NCBI
Rdx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494792,645,011 - 92,713,067 (-)NCBI
SpeTri2.0NW_0049366123,992,542 - 4,060,598 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RDX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl938,220,441 - 38,376,439 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1938,243,608 - 38,299,561 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2942,953,206 - 43,009,694 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RDX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11101,554,640 - 101,647,765 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1101,554,334 - 101,623,093 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604324,300,763 - 24,397,097 (+)NCBIVero_WHO_p1.0
Rdx
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247845,198,433 - 5,304,953 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D11S927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,138,179 - 110,138,321UniSTSGRCh37
GRCh37X151,887,421 - 151,887,752UniSTSGRCh37
Build 36X151,638,077 - 151,638,408RGDNCBI36
Celera11107,291,647 - 107,291,789RGD
HuRef11106,062,380 - 106,062,525UniSTS
HuRef1198,680,151 - 98,680,347UniSTS
HuRef1142,002,991 - 42,003,354UniSTS
Marshfield Genetic Map11104.03UniSTS
Marshfield Genetic Map11104.03RGD
Genethon Genetic Map11108.7UniSTS
TNG Radiation Hybrid Map1150378.0UniSTS
GeneMap99-GB4 RH Map11369.24UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map111004.0UniSTS
SHGC-12842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,102,354 - 110,102,581UniSTSGRCh37
Build 3611109,607,564 - 109,607,791RGDNCBI36
Celera11107,255,822 - 107,256,049RGD
Cytogenetic Map11q23UniSTS
HuRef11106,026,848 - 106,027,075UniSTS
GeneMap99-G3 RH Map11176.0UniSTS
RH91872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,066,331 - 110,066,416UniSTSGRCh37
Build 3611109,571,541 - 109,571,626RGDNCBI36
Celera11107,219,797 - 107,219,882RGD
Cytogenetic Map11q23UniSTS
HuRef11105,990,693 - 105,990,778UniSTS
GeneMap99-GB4 RH Map11369.14UniSTS
RH27285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,102,433 - 110,102,650UniSTSGRCh37
GRCh37X27,535,721 - 27,535,938UniSTSGRCh37
Build 36X27,445,642 - 27,445,859RGDNCBI36
Celera11107,255,901 - 107,256,118UniSTS
CeleraX31,664,280 - 31,664,497RGD
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic MapXp22UniSTS
HuRef11106,026,927 - 106,027,144UniSTS
HuRefX25,274,896 - 25,275,113UniSTS
RH27481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37114,230,767 - 4,230,882UniSTSGRCh37
GRCh3711110,101,784 - 110,101,898UniSTSGRCh37
Build 3611109,606,994 - 109,607,108RGDNCBI36
Celera11107,255,252 - 107,255,366RGD
Celera114,235,317 - 4,235,432UniSTS
Cytogenetic Map11q23UniSTS
HuRef113,963,661 - 3,963,776UniSTS
RH27475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37114,231,008 - 4,231,176UniSTSGRCh37
GRCh3711110,102,027 - 110,102,196UniSTSGRCh37
Build 3611109,607,237 - 109,607,406RGDNCBI36
Celera11107,255,495 - 107,255,664RGD
Celera114,235,558 - 4,235,726UniSTS
Cytogenetic Map11q23UniSTS
HuRef11106,026,521 - 106,026,690UniSTS
HuRef113,963,902 - 3,964,070UniSTS
SHGC-81559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,132,142 - 110,132,419UniSTSGRCh37
Build 3611109,637,352 - 109,637,629RGDNCBI36
Celera11107,285,610 - 107,285,887RGD
Cytogenetic Map11q23UniSTS
HuRef11106,056,350 - 106,056,627UniSTS
TNG Radiation Hybrid Map1150370.0UniSTS
RH79199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,101,867 - 110,102,000UniSTSGRCh37
GRCh37X27,535,153 - 27,535,284UniSTSGRCh37
Build 36X27,445,074 - 27,445,205RGDNCBI36
CeleraX31,663,712 - 31,663,843RGD
Celera11107,255,335 - 107,255,468UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic MapXp21.3UniSTS
GeneMap99-GB4 RH Map11367.42UniSTS
WI-17994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,133,992 - 110,134,141UniSTSGRCh37
Build 3611109,639,202 - 109,639,351RGDNCBI36
Celera11107,287,460 - 107,287,609RGD
Cytogenetic Map11q23UniSTS
HuRef11106,058,199 - 106,058,348UniSTS
GeneMap99-GB4 RH Map11369.14UniSTS
Whitehead-RH Map11503.1UniSTS
NCBI RH Map111004.0UniSTS
RDX_8589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37114,230,553 - 4,231,453UniSTSGRCh37
GRCh3711110,101,559 - 110,102,470UniSTSGRCh37
Build 3611109,606,769 - 109,607,680RGDNCBI36
Celera11107,255,027 - 107,255,938RGD
Celera114,235,103 - 4,236,003UniSTS
HuRef113,963,447 - 3,964,347UniSTS
HuRef11106,026,060 - 106,026,964UniSTS
RH115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,100,271 - 110,100,395UniSTSGRCh37
GRCh37X27,533,388 - 27,533,707UniSTSGRCh37
Build 36X27,443,309 - 27,443,628RGDNCBI36
Celera11107,253,739 - 107,253,863UniSTS
CeleraX31,661,949 - 31,662,268RGD
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic MapXp22UniSTS
HuRef11106,024,762 - 106,024,886UniSTS
HuRefX25,272,990 - 25,273,309UniSTS
GeneMap99-GB4 RH Map11369.14UniSTS
SGC35288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,161,228 - 110,161,427UniSTSGRCh37
GRCh37325,349,487 - 25,349,961UniSTSGRCh37
Build 36325,324,491 - 25,324,965RGDNCBI36
Celera11107,314,696 - 107,314,895UniSTS
Celera325,285,727 - 25,286,201RGD
Celera1744,784,393 - 44,784,551UniSTS
HuRef11106,085,465 - 106,085,664UniSTS
HuRef1743,691,609 - 43,691,767UniSTS
GeneMap99-GB4 RH Map11367.02UniSTS
Whitehead-RH Map11503.0UniSTS
NCBI RH Map111004.0UniSTS
RDX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X27,536,458 - 27,536,930UniSTSGRCh37
GRCh3711110,128,531 - 110,128,861UniSTSGRCh37
CeleraX31,665,017 - 31,665,489UniSTS
Celera11107,281,999 - 107,282,329UniSTS
HuRef11106,052,740 - 106,053,070UniSTS
HuRefX25,275,633 - 25,276,105UniSTS
GDB:196850  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23UniSTS
RH80793  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23UniSTS
HuRef11106,085,527 - 106,085,764UniSTS
GeneMap99-GB4 RH Map11366.13UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR409hsa-miR-409-3pOncomiRDBexternal_infoNANA22179828
MIR31hsa-miR-31-5pOncomiRDBexternal_infoNANA22089331

Predicted Target Of
Summary Value
Count of predictions:3669
Count of miRNA genes:1141
Interacting mature miRNAs:1390
Transcripts:ENST00000343115, ENST00000405097, ENST00000527537, ENST00000528498, ENST00000528556, ENST00000528900, ENST00000529774, ENST00000530085, ENST00000530131, ENST00000530301, ENST00000530749, ENST00000532118, ENST00000532461, ENST00000533678, ENST00000533961, ENST00000533991, ENST00000534683, ENST00000544551
Prediction methods:Microtar, Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2016 1983 1683 587 991 429 4105 2018 3546 385 1425 1603 171 1202 2691 4
Low 388 949 42 37 891 35 251 177 184 33 31 9 4 1 2 97 2
Below cutoff 24 56 1 63 1 3 1 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001260492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001260493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001260494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001260495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001260496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB839120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI600187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF124193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF265114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK299903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ916738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ916739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ916740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ916741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ916742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF445024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L02320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N92548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000527537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,229,447 - 110,236,671 (-)Ensembl
RefSeq Acc Id: ENST00000528498   ⟹   ENSP00000432112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,174,880 - 110,296,712 (-)Ensembl
RefSeq Acc Id: ENST00000528556   ⟹   ENSP00000434881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,263,960 - 110,296,597 (-)Ensembl
RefSeq Acc Id: ENST00000528900   ⟹   ENSP00000433580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,195,561 - 110,296,712 (-)Ensembl
RefSeq Acc Id: ENST00000529774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,253,945 - 110,258,208 (-)Ensembl
RefSeq Acc Id: ENST00000530085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,231,838 - 110,237,886 (-)Ensembl
RefSeq Acc Id: ENST00000530131   ⟹   ENSP00000432829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,231,551 - 110,296,614 (-)Ensembl
RefSeq Acc Id: ENST00000530301   ⟹   ENSP00000436277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,195,561 - 110,296,712 (-)Ensembl
RefSeq Acc Id: ENST00000530749   ⟹   ENSP00000437301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,174,880 - 110,296,712 (-)Ensembl
RefSeq Acc Id: ENST00000532118   ⟹   ENSP00000437140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,258,179 - 110,288,391 (-)Ensembl
RefSeq Acc Id: ENST00000532461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,229,450 - 110,237,857 (-)Ensembl
RefSeq Acc Id: ENST00000533678   ⟹   ENSP00000435930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,264,779 - 110,296,618 (-)Ensembl
RefSeq Acc Id: ENST00000533961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,231,550 - 110,233,523 (-)Ensembl
RefSeq Acc Id: ENST00000533991   ⟹   ENSP00000432572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,264,045 - 110,296,640 (-)Ensembl
RefSeq Acc Id: ENST00000534683   ⟹   ENSP00000431560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,255,306 - 110,296,612 (-)Ensembl
RefSeq Acc Id: ENST00000544551   ⟹   ENSP00000445826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,229,443 - 110,296,712 (-)Ensembl
RefSeq Acc Id: ENST00000642511   ⟹   ENSP00000494706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,258,114 - 110,264,824 (-)Ensembl
RefSeq Acc Id: ENST00000645312   ⟹   ENSP00000494060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,185,073 - 110,233,466 (-)Ensembl
RefSeq Acc Id: ENST00000645495   ⟹   ENSP00000496503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,229,441 - 110,296,614 (-)Ensembl
RefSeq Acc Id: ENST00000645527   ⟹   ENSP00000496121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11109,864,295 - 110,296,612 (-)Ensembl
RefSeq Acc Id: ENST00000646663   ⟹   ENSP00000494693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,195,590 - 110,296,504 (-)Ensembl
RefSeq Acc Id: ENST00000647231   ⟹   ENSP00000496414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11110,195,561 - 110,296,614 (-)Ensembl
RefSeq Acc Id: NM_001260492   ⟹   NP_001247421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811110,195,561 - 110,296,614 (-)NCBI
GRCh3711110,045,605 - 110,167,437 (-)NCBI
HuRef11105,970,010 - 106,091,683 (-)NCBI
CHM1_111109,949,455 - 110,050,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001260493   ⟹   NP_001247422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811110,174,922 - 110,296,614 (-)NCBI
HuRef11105,970,010 - 106,091,683 (-)NCBI
CHM1_111109,928,800 - 110,050,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001260494   ⟹   NP_001247423
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811110,229,441 - 110,296,614 (-)NCBI
GRCh3711110,045,605 - 110,167,437 (-)NCBI
HuRef11105,970,010 - 106,091,683 (-)NCBI
CHM1_111109,983,359 - 110,050,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001260495   ⟹   NP_001247424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811110,195,561 - 110,296,614 (-)NCBI
GRCh3711110,045,605 - 110,167,437 (-)NCBI
HuRef11105,970,010 - 106,091,683 (-)NCBI
CHM1_111109,949,455 - 110,050,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001260496   ⟹   NP_001247425
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811110,195,561 - 110,296,614 (-)NCBI
GRCh3711110,045,605 - 110,167,437 (-)NCBI
HuRef11105,970,010 - 106,091,683 (-)NCBI
CHM1_111109,949,455 - 110,050,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002906   ⟹   NP_002897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811110,229,441 - 110,296,614 (-)NCBI
GRCh3711110,045,605 - 110,167,437 (-)NCBI
Build 3611109,605,376 - 109,672,647 (-)NCBI Archive
HuRef11105,970,010 - 106,091,683 (-)NCBI
CHM1_111109,983,359 - 110,050,624 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002897   ⟸   NM_002906
- Peptide Label: isoform 2
- UniProtKB: P35241 (UniProtKB/Swiss-Prot),   B0YJ88 (UniProtKB/TrEMBL),   Q6PKD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001247422   ⟸   NM_001260493
- Peptide Label: isoform 1
- UniProtKB: P35241 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001247424   ⟸   NM_001260495
- Peptide Label: isoform 4
- UniProtKB: P35241 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001247425   ⟸   NM_001260496
- Peptide Label: isoform 5
- UniProtKB: P35241 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001247421   ⟸   NM_001260492
- Peptide Label: isoform 1
- UniProtKB: P35241 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001247423   ⟸   NM_001260494
- Peptide Label: isoform 3
- UniProtKB: P35241 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000437301   ⟸   ENST00000530749
RefSeq Acc Id: ENSP00000436277   ⟸   ENST00000530301
RefSeq Acc Id: ENSP00000432829   ⟸   ENST00000530131
RefSeq Acc Id: ENSP00000445826   ⟸   ENST00000544551
RefSeq Acc Id: ENSP00000437140   ⟸   ENST00000532118
RefSeq Acc Id: ENSP00000435930   ⟸   ENST00000533678
RefSeq Acc Id: ENSP00000432572   ⟸   ENST00000533991
RefSeq Acc Id: ENSP00000431560   ⟸   ENST00000534683
RefSeq Acc Id: ENSP00000494706   ⟸   ENST00000642511
RefSeq Acc Id: ENSP00000496121   ⟸   ENST00000645527
RefSeq Acc Id: ENSP00000496503   ⟸   ENST00000645495
RefSeq Acc Id: ENSP00000494060   ⟸   ENST00000645312
RefSeq Acc Id: ENSP00000432112   ⟸   ENST00000528498
RefSeq Acc Id: ENSP00000434881   ⟸   ENST00000528556
RefSeq Acc Id: ENSP00000433580   ⟸   ENST00000528900
RefSeq Acc Id: ENSP00000494693   ⟸   ENST00000646663
RefSeq Acc Id: ENSP00000496414   ⟸   ENST00000647231
Protein Domains
ERM   FERM

Promoters
RGD ID:6789309
Promoter ID:HG_KWN:14136
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000405097,   NM_002906,   UC009YXX.1,   UC009YXZ.1,   UC009YYA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611109,672,209 - 109,672,709 (-)MPROMDB
RGD ID:7222043
Promoter ID:EPDNEW_H16766
Type:initiation region
Name:RDX_2
Description:radixin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16767  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811110,264,847 - 110,264,907EPDNEW
RGD ID:7222041
Promoter ID:EPDNEW_H16767
Type:initiation region
Name:RDX_1
Description:radixin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16766  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811110,296,612 - 110,296,672EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002906.4(RDX):c.1732G>A (p.Asp578Asn) single nucleotide variant Deafness, autosomal recessive 24 [RCV000014072] Chr11:110231889 [GRCh38]
Chr11:110102614 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.1405dup (p.Ala469fs) duplication Deafness, autosomal recessive 24 [RCV000014073] Chr11:110233418..110233419 [GRCh38]
Chr11:110104143..110104144 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.463C>T (p.Gln155Ter) single nucleotide variant Deafness, autosomal recessive 24 [RCV000014074] Chr11:110263964 [GRCh38]
Chr11:110134689 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.698+1G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000014075] Chr11:110257766 [GRCh38]
Chr11:110128491 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.1059A>G (p.Gln353=) single nucleotide variant Deafness, autosomal recessive 24 [RCV001108003]|not provided [RCV000892705]|not specified [RCV000037712] Chr11:110247734 [GRCh38]
Chr11:110118459 [GRCh37]
Chr11:11q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn) single nucleotide variant not provided [RCV001571007]|not specified [RCV000037713] Chr11:110233356 [GRCh38]
Chr11:110104081 [GRCh37]
Chr11:11q22.3
likely benign|uncertain significance
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) single nucleotide variant Deafness, autosomal recessive 24 [RCV000275257]|not provided [RCV000881421]|not specified [RCV000037714] Chr11:110233337 [GRCh38]
Chr11:110104062 [GRCh37]
Chr11:11q22.3
benign|likely benign|uncertain significance
NM_002906.4(RDX):c.72A>G (p.Thr24=) single nucleotide variant not specified [RCV000037715] Chr11:110272560 [GRCh38]
Chr11:110143285 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.959+3dup duplication not specified [RCV000037716] Chr11:110253942..110253943 [GRCh38]
Chr11:110124667..110124668 [GRCh37]
Chr11:11q22.3
uncertain significance
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
NM_002906.4(RDX):c.1282A>G (p.Ile428Val) single nucleotide variant not provided [RCV000922492]|not specified [RCV000155954] Chr11:110236161 [GRCh38]
Chr11:110106886 [GRCh37]
Chr11:11q22.3
likely benign|uncertain significance
NM_002906.4(RDX):c.1308del (p.Lys438fs) deletion Rare genetic deafness [RCV000155993] Chr11:110236135 [GRCh38]
Chr11:110106860 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.1410C>A (p.Pro470=) single nucleotide variant not provided [RCV001575580]|not specified [RCV000156135] Chr11:110233414 [GRCh38]
Chr11:110104139 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1364A>C (p.Asp455Ala) single nucleotide variant not specified [RCV000156494] Chr11:110233460 [GRCh38]
Chr11:110104185 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.97-19TGT[3] microsatellite not provided [RCV001564690]|not specified [RCV000156629] Chr11:110264882..110264884 [GRCh38]
Chr11:110135607..110135609 [GRCh37]
Chr11:11q22.3
likely benign|not provided
NM_002906.4(RDX):c.1341C>A (p.His447Gln) single nucleotide variant not specified [RCV000151738] Chr11:110236102 [GRCh38]
Chr11:110106827 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1176G>A (p.Glu392=) single nucleotide variant not specified [RCV000156833] Chr11:110237567 [GRCh38]
Chr11:110108292 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.778A>G (p.Ile260Val) single nucleotide variant not provided [RCV000766845]|not specified [RCV000155275] Chr11:110255306 [GRCh38]
Chr11:110126031 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.354G>T (p.Pro118=) single nucleotide variant Deafness, autosomal recessive 24 [RCV000342445]|not provided [RCV000827006]|not specified [RCV000151739] Chr11:110264073 [GRCh38]
Chr11:110134798 [GRCh37]
Chr11:11q22.3
benign|uncertain significance
NM_002906.4(RDX):c.256C>G (p.Pro86Ala) single nucleotide variant not specified [RCV000219753] Chr11:110264171 [GRCh38]
Chr11:110134896 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.790G>C (p.Ala264Pro) single nucleotide variant not specified [RCV000214012] Chr11:110255294 [GRCh38]
Chr11:110126019 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1154A>C (p.Glu385Ala) single nucleotide variant not specified [RCV000218122] Chr11:110237589 [GRCh38]
Chr11:110108314 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.995T>C (p.Ile332Thr) single nucleotide variant not provided [RCV001562098]|not specified [RCV000218314] Chr11:110247798 [GRCh38]
Chr11:110118523 [GRCh37]
Chr11:11q22.3
likely benign|uncertain significance
NM_002906.4(RDX):c.471A>G (p.Val157=) single nucleotide variant not provided [RCV001577473]|not specified [RCV000218427] Chr11:110258186 [GRCh38]
Chr11:110128911 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1091-10T>C single nucleotide variant not specified [RCV000222992] Chr11:110237662 [GRCh38]
Chr11:110108387 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1548C>T (p.Thr516=) single nucleotide variant not specified [RCV000216741] Chr11:110233276 [GRCh38]
Chr11:110104001 [GRCh37]
Chr11:11q22.3
likely benign
NM_001260495.1(RDX):c.-82-10002T>C single nucleotide variant not specified [RCV000600172] Chr11:110257835 [GRCh38]
Chr11:110128560 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.*1368A>C single nucleotide variant Deafness, autosomal recessive 24 [RCV000320286] Chr11:110230501 [GRCh38]
Chr11:110101226 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.*1313G>C single nucleotide variant Deafness, autosomal recessive 24 [RCV000285642] Chr11:110230556 [GRCh38]
Chr11:110101281 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*722_*724del deletion Nonsyndromic Hearing Loss, Recessive [RCV000303622] Chr11:110231145..110231147 [GRCh38]
Chr11:110101870..110101872 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260492.1(RDX):c.1748+1262_1748+1267del deletion Nonsyndromic Hearing Loss, Recessive [RCV000325859] Chr11:110230606..110230611 [GRCh38]
Chr11:110101331..110101336 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.*79A>C single nucleotide variant Deafness, autosomal recessive 24 [RCV000271615] Chr11:110231790 [GRCh38]
Chr11:110102515 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1049G>A (p.Arg350His) single nucleotide variant Deafness, autosomal recessive 24 [RCV000374116] Chr11:110247744 [GRCh38]
Chr11:110118469 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1955A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV000374163] Chr11:110229914 [GRCh38]
Chr11:110100639 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*429G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000306940] Chr11:110231440 [GRCh38]
Chr11:110102165 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1290A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV000352117] Chr11:110230579 [GRCh38]
Chr11:110101304 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.1530C>T (p.Ser510=) single nucleotide variant Deafness, autosomal recessive 24 [RCV000329047]|not provided [RCV000904842] Chr11:110233294 [GRCh38]
Chr11:110104019 [GRCh37]
Chr11:11q22.3
benign|likely benign|uncertain significance
NM_002906.4(RDX):c.*1251A>C single nucleotide variant Deafness, autosomal recessive 24 [RCV000291099] Chr11:110230618 [GRCh38]
Chr11:110101343 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*2006A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV000259586] Chr11:110229863 [GRCh38]
Chr11:110100588 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1173A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV000294535] Chr11:110230696 [GRCh38]
Chr11:110101421 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.*1083G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000335391] Chr11:110230786 [GRCh38]
Chr11:110101511 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.-149C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000276183] Chr11:110296551 [GRCh38]
Chr11:110167276 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.-169C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000314868] Chr11:110296571 [GRCh38]
Chr11:110167296 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1284G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000360718] Chr11:110230585 [GRCh38]
Chr11:110101310 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*523_*524del deletion Nonsyndromic Hearing Loss, Recessive [RCV000360786] Chr11:110231345..110231346 [GRCh38]
Chr11:110102070..110102071 [GRCh37]
Chr11:11q22.3
likely benign
NM_001260492.1(RDX):c.1748+1238GA[4] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000386506] Chr11:110230624..110230627 [GRCh38]
Chr11:110101349..110101352 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.*885G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000338878] Chr11:110230984 [GRCh38]
Chr11:110101709 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.602A>G (p.Tyr201Cys) single nucleotide variant Deafness, autosomal recessive 24 [RCV000339086]|not provided [RCV001289164] Chr11:110257863 [GRCh38]
Chr11:110128588 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260492.1(RDX):c.1748+1264GT[12] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000264804] Chr11:110230580..110230585 [GRCh38]
Chr11:110101305..110101310 [GRCh37]
Chr11:11q22.3
likely benign
NM_001260492.1(RDX):c.1748+927del deletion Nonsyndromic Hearing Loss, Recessive [RCV000281534] Chr11:110230946 [GRCh38]
Chr11:110101671 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1162C>A (p.Arg388=) single nucleotide variant Deafness, autosomal recessive 24 [RCV000317117] Chr11:110237581 [GRCh38]
Chr11:110108306 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*156A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV000363910] Chr11:110231713 [GRCh38]
Chr11:110102438 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.*1579A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV000265216] Chr11:110230290 [GRCh38]
Chr11:110101015 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.836G>T (p.Arg279Leu) single nucleotide variant Deafness, autosomal recessive 24 [RCV000281752] Chr11:110254069 [GRCh38]
Chr11:110124794 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1961G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000319471] Chr11:110229908 [GRCh38]
Chr11:110100633 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1504A>G (p.Asn502Asp) single nucleotide variant Deafness, autosomal recessive 24 [RCV000367552] Chr11:110233320 [GRCh38]
Chr11:110104045 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260492.1(RDX):c.1748+1264GT[17] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000270781] Chr11:110230579..110230580 [GRCh38]
Chr11:110101304..110101305 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260496.1(RDX):c.405-5488A>G single nucleotide variant not provided [RCV000271360] Chr11:110237492 [GRCh38]
Chr11:110108217 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1188T>C (p.Ala396=) single nucleotide variant Deafness, autosomal recessive 24 [RCV000259513] Chr11:110237555 [GRCh38]
Chr11:110108280 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.-105C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000368258] Chr11:110296507 [GRCh38]
Chr11:110167232 [GRCh37]
Chr11:11q22.3
likely benign|uncertain significance
NM_002906.4(RDX):c.468-12dup duplication Nonsyndromic Hearing Loss, Recessive [RCV000285118]|not provided [RCV001558429] Chr11:110258200..110258201 [GRCh38]
Chr11:110128925..110128926 [GRCh37]
Chr11:11q22.3
likely benign|uncertain significance
NM_002906.4(RDX):c.*1285_*1289TG[2]TTTGTGT[1] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000298706] Chr11:110230579..110230580 [GRCh38]
Chr11:110101304..110101305 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1289_*1290insGTGTGC insertion Nonsyndromic Hearing Loss, Recessive [RCV000300005] Chr11:110230579..110230580 [GRCh38]
Chr11:110101304..110101305 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260495.1(RDX):c.-82-7474A>G single nucleotide variant not provided [RCV000276338] Chr11:110255307 [GRCh38]
Chr11:110126032 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.-221C>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000262279] Chr11:110296623 [GRCh38]
Chr11:110167348 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.-64-6del deletion Nonsyndromic Hearing Loss, Recessive [RCV000307852]|not provided [RCV001718612] Chr11:110279762 [GRCh38]
Chr11:110150487 [GRCh37]
Chr11:11q22.3
benign|likely benign
NM_002906.4(RDX):c.*1287_*1288insTTGT insertion Nonsyndromic Hearing Loss, Recessive [RCV000324610] Chr11:110230581..110230582 [GRCh38]
Chr11:110101306..110101307 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260495.1(RDX):c.-82-7471C>T single nucleotide variant not provided [RCV000284883] Chr11:110255304 [GRCh38]
Chr11:110126029 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1260GT[18] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000353518] Chr11:110230579..110230580 [GRCh38]
Chr11:110101304..110101305 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.1411C>G (p.Pro471Ala) single nucleotide variant Deafness, autosomal recessive 24 [RCV000332763] Chr11:110233413 [GRCh38]
Chr11:110104138 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1305GA[7] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000379545] Chr11:110230554..110230555 [GRCh38]
Chr11:110101279..110101280 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260492.1(RDX):c.1748+1264GT[19] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000391860] Chr11:110230579..110230580 [GRCh38]
Chr11:110101304..110101305 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.-305G>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000265925] Chr11:110296707 [GRCh38]
Chr11:110167432 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1411C>T (p.Pro471Ser) single nucleotide variant not provided [RCV000401456] Chr11:110233413 [GRCh38]
Chr11:110104138 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260492.1(RDX):c.1748+1238GA[5] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000329694] Chr11:110230624..110230625 [GRCh38]
Chr11:110101349..110101350 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1288_*1291del deletion Nonsyndromic Hearing Loss, Recessive [RCV000291504] Chr11:110230578..110230581 [GRCh38]
Chr11:110101303..110101306 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1285_*1290dup duplication Nonsyndromic Hearing Loss, Recessive [RCV000346237] Chr11:110230578..110230579 [GRCh38]
Chr11:110101303..110101304 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1290_*1291del deletion Nonsyndromic Hearing Loss, Recessive [RCV000381145] Chr11:110230578..110230579 [GRCh38]
Chr11:110101303..110101304 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*800C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000400175] Chr11:110231069 [GRCh38]
Chr11:110101794 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1289_*1290del deletion Nonsyndromic Hearing Loss, Recessive [RCV000400772] Chr11:110230579..110230580 [GRCh38]
Chr11:110101304..110101305 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1285_*1290del deletion Nonsyndromic Hearing Loss, Recessive [RCV000292508] Chr11:110230579..110230584 [GRCh38]
Chr11:110101304..110101309 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.-64-7_-64-6del deletion Nonsyndromic Hearing Loss, Recessive [RCV000346453] Chr11:110279762..110279763 [GRCh38]
Chr11:110150487..110150488 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.-65+12C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000400986] Chr11:110296455 [GRCh38]
Chr11:110167180 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_139279.6(MCFD2):c.249del (p.Asp83fs) duplication Nonsyndromic Hearing Loss, Recessive [RCV000401789]|not provided [RCV001590923] Chr11:110279761..110279762 [GRCh38]
Chr11:110150486..110150487 [GRCh37]
Chr11:11q22.3
likely benign|uncertain significance
NM_001260492.1(RDX):c.1748+1252GA[4] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000385094] Chr11:110230612..110230613 [GRCh38]
Chr11:110101337..110101338 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.-290C>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000319662] Chr11:110296692 [GRCh38]
Chr11:110167417 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.1195G>A (p.Ala399Thr) single nucleotide variant Deafness, autosomal recessive 24 [RCV000389591] Chr11:110237548 [GRCh38]
Chr11:110108273 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.-309T>G single nucleotide variant Deafness, autosomal recessive 24 [RCV000323284] Chr11:110296711 [GRCh38]
Chr11:110167436 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.*463A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV000390952] Chr11:110231406 [GRCh38]
Chr11:110102131 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*2057T>C single nucleotide variant Deafness, autosomal recessive 24 [RCV000354364] Chr11:110229812 [GRCh38]
Chr11:110100537 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.-179C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000354741] Chr11:110296581 [GRCh38]
Chr11:110167306 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.-76C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000311222] Chr11:110296478 [GRCh38]
Chr11:110167203 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.*1058G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV000394549] Chr11:110230811 [GRCh38]
Chr11:110101536 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260492.1(RDX):c.1748+1295del deletion Nonsyndromic Hearing Loss, Recessive [RCV000326634] Chr11:110230578 [GRCh38]
Chr11:110101303 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.3(RDX):c.-297C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000376657] Chr11:110296699 [GRCh38]
Chr11:110167424 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1260GT[14] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000359495] Chr11:110230580..110230581 [GRCh38]
Chr11:110101305..110101306 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.507A>G (p.Glu169=) single nucleotide variant Deafness, autosomal recessive 24 [RCV000377287] Chr11:110258150 [GRCh38]
Chr11:110128875 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*2423C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV000313565] Chr11:110229446 [GRCh38]
Chr11:110100171 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.467+1G>A single nucleotide variant not provided [RCV000429322] Chr11:110263959 [GRCh38]
Chr11:110134684 [GRCh37]
Chr11:11q22.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q22.3(chr11:109558847-110079020)x3 copy number gain See cases [RCV000511370] Chr11:109558847..110079020 [GRCh37]
Chr11:11q22.3
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002906.4(RDX):c.564G>C (p.Met188Ile) single nucleotide variant not provided [RCV000595667] Chr11:110257901 [GRCh38]
Chr11:110128626 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260496.1(RDX):c.405-1407T>C single nucleotide variant not specified [RCV000609776] Chr11:110233411 [GRCh38]
Chr11:110104136 [GRCh37]
Chr11:11q22.3
likely benign
NM_001260495.1(RDX):c.-5A>C single nucleotide variant not provided [RCV001358542]|not specified [RCV000600590] Chr11:110247756 [GRCh38]
Chr11:110118481 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1345-7T>C single nucleotide variant Deafness, autosomal recessive 24 [RCV001107354]|not provided [RCV000597409] Chr11:110233486 [GRCh38]
Chr11:110104211 [GRCh37]
Chr11:11q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001260494.1(RDX):c.60-6663G>T single nucleotide variant not specified [RCV000608130] Chr11:110264852 [GRCh38]
Chr11:110135577 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260495.1(RDX):c.-82-6166A>G single nucleotide variant not specified [RCV000609008] Chr11:110253999 [GRCh38]
Chr11:110124724 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.796-9T>C single nucleotide variant not provided [RCV001707809] Chr11:110254118 [GRCh38]
Chr11:110124843 [GRCh37]
Chr11:11q22.3
likely benign
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649129] Chr11:110247639 [GRCh38]
Chr11:110118364 [GRCh37]
Chr11:11q22.3
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680404] Chr11:110233199 [GRCh38]
Chr11:110103924 [GRCh37]
Chr11:11q22.3
benign
null insertion not provided [RCV001611757] Chr11:110233697..110233698 [GRCh38]
Chr11:110104422..110104423 [GRCh37]
Chr11:11q22.3
benign
NM_002906.4(RDX):c.97-224del deletion not provided [RCV001549991] Chr11:110265098 [GRCh38]
Chr11:110135823 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1272C>T (p.Phe424=) single nucleotide variant not provided [RCV000906765] Chr11:110236171 [GRCh38]
Chr11:110106896 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1707A>T (p.Arg569=) single nucleotide variant not specified [RCV000825224] Chr11:110231914 [GRCh38]
Chr11:110102639 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.551+2T>C single nucleotide variant Deafness, autosomal recessive 24 [RCV000790510] Chr11:110258104 [GRCh38]
Chr11:110128829 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.910C>T (p.Gln304Ter) single nucleotide variant Deafness, autosomal recessive 24 [RCV000778301] Chr11:110253995 [GRCh38]
Chr11:110124720 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.573C>A (p.Tyr191Ter) single nucleotide variant Deafness, autosomal recessive 24 [RCV000778302] Chr11:110257892 [GRCh38]
Chr11:110128617 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1260A>G (p.Glu420=) single nucleotide variant not provided [RCV000952969] Chr11:110236183 [GRCh38]
Chr11:110106908 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.468-80G>C single nucleotide variant not provided [RCV000842695] Chr11:110258269 [GRCh38]
Chr11:110128994 [GRCh37]
Chr11:11q22.3
benign
NM_002906.4(RDX):c.1729A>G (p.Ile577Val) single nucleotide variant not specified [RCV000826030] Chr11:110231892 [GRCh38]
Chr11:110102617 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1106C>G (p.Thr369Ser) single nucleotide variant not specified [RCV000826031] Chr11:110237637 [GRCh38]
Chr11:110108362 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1551A>G (p.Glu517=) single nucleotide variant not provided [RCV000938727] Chr11:110233273 [GRCh38]
Chr11:110103998 [GRCh37]
Chr11:11q22.3
likely benign
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1 copy number loss not provided [RCV001006445] Chr11:105699599..114524876 [GRCh37]
Chr11:11q22.3-23.3
pathogenic
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 copy number loss not provided [RCV000848741] Chr11:104101411..116680918 [GRCh37]
Chr11:11q22.3-23.3
pathogenic
NM_002906.4(RDX):c.1251+14T>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001107355] Chr11:110237478 [GRCh38]
Chr11:110108203 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*2253C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV001104505] Chr11:110229616 [GRCh38]
Chr11:110100341 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*2085A>C single nucleotide variant Deafness, autosomal recessive 24 [RCV001104507] Chr11:110229784 [GRCh38]
Chr11:110100509 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*474A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001104605] Chr11:110231395 [GRCh38]
Chr11:110102120 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1577A>G (p.Lys526Arg) single nucleotide variant Deafness, autosomal recessive 24 [RCV001104608] Chr11:110233247 [GRCh38]
Chr11:110103972 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260493.1(RDX):c.-240C>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001104696] Chr11:110296642 [GRCh38]
Chr11:110167367 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1264G>C single nucleotide variant Deafness, autosomal recessive 24 [RCV001107913] Chr11:110230605 [GRCh38]
Chr11:110101330 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1215G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV001107914] Chr11:110230654 [GRCh38]
Chr11:110101379 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.6G>A (p.Pro2=) single nucleotide variant Deafness, autosomal recessive 24 [RCV001102780]|not provided [RCV001564567] Chr11:110279687 [GRCh38]
Chr11:110150412 [GRCh37]
Chr11:11q22.3
likely benign|uncertain significance
NM_001260493.1(RDX):c.-272A>T single nucleotide variant Deafness, autosomal recessive 24 [RCV001105853] Chr11:110296674 [GRCh38]
Chr11:110167399 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260493.1(RDX):c.-285A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001105854] Chr11:110296687 [GRCh38]
Chr11:110167412 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001643720] Chr11:110233497 [GRCh38]
Chr11:110104222 [GRCh37]
Chr11:11q22.3
benign
NM_002906.4(RDX):c.1251+44T>C single nucleotide variant not provided [RCV001550109] Chr11:110237448 [GRCh38]
Chr11:110108173 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.471A>T (p.Val157=) single nucleotide variant not provided [RCV001570279] Chr11:110258186 [GRCh38]
Chr11:110128911 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1251+23dup duplication not provided [RCV001554889] Chr11:110237463..110237464 [GRCh38]
Chr11:110108188..110108189 [GRCh37]
Chr11:11q22.3
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) duplication not provided [RCV001653997] Chr11:110279865..110279866 [GRCh38]
Chr11:110150590..110150591 [GRCh37]
Chr11:11q22.3
benign
NM_002906.4(RDX):c.1090+249A>C single nucleotide variant not provided [RCV001576407] Chr11:110247454 [GRCh38]
Chr11:110118179 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1410C>G (p.Pro470=) single nucleotide variant not provided [RCV001556507] Chr11:110233414 [GRCh38]
Chr11:110104139 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1515A>G (p.Val505=) single nucleotide variant not provided [RCV000939794] Chr11:110233309 [GRCh38]
Chr11:110104034 [GRCh37]
Chr11:11q22.3
likely benign
NM_001260493.1(RDX):c.-291G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV001105855] Chr11:110296693 [GRCh38]
Chr11:110167418 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1632A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001107263] Chr11:110230237 [GRCh38]
Chr11:110100962 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1547C>T (p.Thr516Ile) single nucleotide variant Deafness, autosomal recessive 24 [RCV001107352] Chr11:110233277 [GRCh38]
Chr11:110104002 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*855T>C single nucleotide variant Deafness, autosomal recessive 24 [RCV001102683] Chr11:110231014 [GRCh38]
Chr11:110101739 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.698+14T>C single nucleotide variant Deafness, autosomal recessive 24 [RCV001108004] Chr11:110257753 [GRCh38]
Chr11:110128478 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.301C>T (p.Leu101Phe) single nucleotide variant Deafness, autosomal recessive 24 [RCV001102779] Chr11:110264126 [GRCh38]
Chr11:110134851 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.97-234dup duplication not provided [RCV001558484] Chr11:110265097..110265098 [GRCh38]
Chr11:110135822..110135823 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.13-301G>A single nucleotide variant not provided [RCV001555841] Chr11:110272920 [GRCh38]
Chr11:110143645 [GRCh37]
Chr11:11q22.3
likely benign
null insertion not provided [RCV001616015] Chr11:110265114..110265115 [GRCh38]
Chr11:110135839..110135840 [GRCh37]
Chr11:11q22.3
benign
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 copy number loss not provided [RCV001006439] Chr11:103320065..114349787 [GRCh37]
Chr11:11q22.3-23.2
pathogenic
null single nucleotide variant not provided [RCV001696327] Chr11:110279490 [GRCh38]
Chr11:110150215 [GRCh37]
Chr11:11q22.3
benign
null single nucleotide variant not provided [RCV001619188] Chr11:110233064 [GRCh38]
Chr11:110103789 [GRCh37]
Chr11:11q22.3
benign
null single nucleotide variant not provided [RCV001636149] Chr11:110272329 [GRCh38]
Chr11:110143054 [GRCh37]
Chr11:11q22.3
benign
NM_002906.4(RDX):c.*2112A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001104506] Chr11:110229757 [GRCh38]
Chr11:110100482 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*2070A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001104508] Chr11:110229799 [GRCh38]
Chr11:110100524 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_001260493.1(RDX):c.-270G>C single nucleotide variant Deafness, autosomal recessive 24 [RCV001104697] Chr11:110296672 [GRCh38]
Chr11:110167397 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.-133C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV001104695] Chr11:110296535 [GRCh38]
Chr11:110167260 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1143G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV001102682] Chr11:110230726 [GRCh38]
Chr11:110101451 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*740C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV001102685] Chr11:110231129 [GRCh38]
Chr11:110101854 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1383G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV001107265] Chr11:110230486 [GRCh38]
Chr11:110101211 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1375G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV001107266] Chr11:110230494 [GRCh38]
Chr11:110101219 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.1495G>C (p.Glu499Gln) single nucleotide variant Deafness, autosomal recessive 24 [RCV001107353] Chr11:110233329 [GRCh38]
Chr11:110104054 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*762C>A single nucleotide variant Deafness, autosomal recessive 24 [RCV001102684] Chr11:110231107 [GRCh38]
Chr11:110101832 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1358C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV001107267] Chr11:110230511 [GRCh38]
Chr11:110101236 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.1398G>T (p.Val466=) single nucleotide variant not provided [RCV001575084] Chr11:110233426 [GRCh38]
Chr11:110104151 [GRCh37]
Chr11:11q22.3
likely benign
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001644229] Chr11:110236021 [GRCh38]
Chr11:110106746 [GRCh37]
Chr11:11q22.3
benign
NM_002906.4(RDX):c.1344+222A>G single nucleotide variant not provided [RCV001575342] Chr11:110235877 [GRCh38]
Chr11:110106602 [GRCh37]
Chr11:11q22.3
likely benign
NM_002906.4(RDX):c.-91G>A single nucleotide variant Deafness, autosomal recessive 24 [RCV001102781] Chr11:110296493 [GRCh38]
Chr11:110167218 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1898A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001107262] Chr11:110229971 [GRCh38]
Chr11:110100696 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1536T>C single nucleotide variant Deafness, autosomal recessive 24 [RCV001107264] Chr11:110230333 [GRCh38]
Chr11:110101058 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*1201A>G single nucleotide variant Deafness, autosomal recessive 24 [RCV001107915] Chr11:110230668 [GRCh38]
Chr11:110101393 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*414A>T single nucleotide variant Deafness, autosomal recessive 24 [RCV001104606] Chr11:110231455 [GRCh38]
Chr11:110102180 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.*302C>T single nucleotide variant Deafness, autosomal recessive 24 [RCV001104607] Chr11:110231567 [GRCh38]
Chr11:110102292 [GRCh37]
Chr11:11q22.3
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_002906.4(RDX):c.960-236C>G single nucleotide variant not provided [RCV001540470] Chr11:110248069 [GRCh38]
Chr11:110118794 [GRCh37]
Chr11:11q22.3
benign
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter) single nucleotide variant Deafness, autosomal recessive 24 [RCV001262022] Chr11:110237635 [GRCh38]
Chr11:110108360 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.682_685del (p.Tyr228fs) deletion not provided [RCV001382842] Chr11:110257780..110257783 [GRCh38]
Chr11:110128505..110128508 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.-64-1215_12+348del deletion Deafness, autosomal recessive 24 [RCV001375665] Chr11:110279333..110280971 [GRCh38]
Chr11:110150058..110151696 [GRCh37]
Chr11:11q22.3
likely pathogenic
NM_002906.4(RDX):c.694G>A (p.Asp232Asn) single nucleotide variant Hearing impairment [RCV001375399] Chr11:110257771 [GRCh38]
Chr11:110128496 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.108_111del (p.Gly38fs) deletion Deafness, autosomal recessive 24 [RCV001335996] Chr11:110264860..110264863 [GRCh38]
Chr11:110135585..110135588 [GRCh37]
Chr11:11q22.3
pathogenic
NM_002906.4(RDX):c.1024C>T (p.Arg342Cys) single nucleotide variant Hearing impairment [RCV001375311] Chr11:110247769 [GRCh38]
Chr11:110118494 [GRCh37]
Chr11:11q22.3
uncertain significance
NM_002906.4(RDX):c.129G>A (p.Trp43Ter) single nucleotide variant Deafness, autosomal recessive 24 [RCV001375666] Chr11:110264842 [GRCh38]
Chr11:110135567 [GRCh37]
Chr11:11q22.3
pathogenic
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1
pathogenic
null single nucleotide variant not provided [RCV001694699] Chr11:110265109 [GRCh38]
Chr11:110135834 [GRCh37]
Chr11:11q22.3
benign
null duplication not provided [RCV001619327] Chr11:110263868..110263869 [GRCh38]
Chr11:110134593..110134594 [GRCh37]
Chr11:11q22.3
benign
null single nucleotide variant not provided [RCV001590802] Chr11:110235809 [GRCh38]
Chr11:110106534 [GRCh37]
Chr11:11q22.3
likely benign
null single nucleotide variant not provided [RCV001587839] Chr11:110272821 [GRCh38]
Chr11:110143546 [GRCh37]
Chr11:11q22.3
likely benign
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001644376] Chr11:110255472 [GRCh38]
Chr11:110126197 [GRCh37]
Chr11:11q22.3
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9944 AgrOrtholog
COSMIC RDX COSMIC
Ensembl Genes ENSG00000137710 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000431560 UniProtKB/TrEMBL
  ENSP00000432112 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432572 UniProtKB/TrEMBL
  ENSP00000432829 UniProtKB/TrEMBL
  ENSP00000433580 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434881 UniProtKB/TrEMBL
  ENSP00000435930 UniProtKB/TrEMBL
  ENSP00000436277 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437140 UniProtKB/TrEMBL
  ENSP00000437301 UniProtKB/Swiss-Prot
  ENSP00000445826 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494060 UniProtKB/TrEMBL
  ENSP00000494693 UniProtKB/TrEMBL
  ENSP00000494706 UniProtKB/TrEMBL
  ENSP00000496121 UniProtKB/TrEMBL
  ENSP00000496414 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496503 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000528498 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528556 UniProtKB/TrEMBL
  ENST00000528900 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000530131 UniProtKB/TrEMBL
  ENST00000530301 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000530749 UniProtKB/Swiss-Prot
  ENST00000532118 UniProtKB/TrEMBL
  ENST00000533678 UniProtKB/TrEMBL
  ENST00000533991 UniProtKB/TrEMBL
  ENST00000534683 UniProtKB/TrEMBL
  ENST00000544551 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642511 UniProtKB/TrEMBL
  ENST00000645312 UniProtKB/TrEMBL
  ENST00000645495 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645527 UniProtKB/TrEMBL
  ENST00000646663 UniProtKB/TrEMBL
  ENST00000647231 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.360.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137710 GTEx
HGNC ID HGNC:9944 ENTREZGENE
Human Proteome Map RDX Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERM_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERM_FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ez/rad/moesin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_PH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Moesin_tail_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5962 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5962 ENTREZGENE
OMIM 179410 OMIM
  611022 OMIM
Pfam ERM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34311 PharmGKB, RGD
PIRSF ERM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS BAND41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERMFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FERM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48678 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4H6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5P0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5S7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7M3_HUMAN UniProtKB/TrEMBL
  B0YJ88 ENTREZGENE, UniProtKB/TrEMBL
  E9PKN5_HUMAN UniProtKB/TrEMBL
  E9PN07_HUMAN UniProtKB/TrEMBL
  E9PNP4_HUMAN UniProtKB/TrEMBL
  E9PNV3_HUMAN UniProtKB/TrEMBL
  E9PQ82_HUMAN UniProtKB/TrEMBL
  E9PRS5_HUMAN UniProtKB/TrEMBL
  P35241 ENTREZGENE
  Q05CU6_HUMAN UniProtKB/TrEMBL
  Q6PKD3 ENTREZGENE, UniProtKB/TrEMBL
  RADI_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A7YIJ8 UniProtKB/Swiss-Prot
  A7YIK0 UniProtKB/Swiss-Prot
  A7YIK3 UniProtKB/Swiss-Prot
  B7Z9U6 UniProtKB/Swiss-Prot
  F5H1A7 UniProtKB/Swiss-Prot
  Q86Y61 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-01 RDX  radixin  DFNB24  deafness, autosomal recessive 24  Data Merged 737654 PROVISIONAL
2011-08-16 RDX  radixin  RDX  radixin  Symbol and/or name change 5135510 APPROVED