AVPR2 (arginine vasopressin receptor 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: AVPR2 (arginine vasopressin receptor 2) Homo sapiens
Analyze
Symbol: AVPR2
Name: arginine vasopressin receptor 2
RGD ID: 730975
HGNC Page HGNC
Description: Exhibits vasopressin receptor activity. Involved in negative regulation of cell population proliferation. Localizes to cytoplasmic vesicle; perinuclear region of cytoplasm; and plasma membrane. Implicated in nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADHR; antidiuretic hormone receptor; AVPR V2; DI1; DIR; DIR3; MGC126533; MGC138386; NDI; renal-type arginine vasopressin receptor; V2R; vasopressin V2 receptor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,902,531 - 153,907,166 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,902,625 - 153,907,166 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,168,079 - 153,172,620 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,823,564 - 152,825,834 (+)NCBINCBI36hg18NCBI36
Build 34X152,691,216 - 152,693,487NCBI
CeleraX153,401,665 - 153,406,333 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,789,000 - 141,824,020 (+)NCBIHuRef
CHM1_1X153,042,396 - 153,047,068 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1303257   PMID:1303271   PMID:1324225   PMID:1356229   PMID:1415251   PMID:1534149   PMID:1534150   PMID:2714800   PMID:7560098   PMID:7833930   PMID:7984150   PMID:7987330  
PMID:7999078   PMID:8037205   PMID:8045948   PMID:8078903   PMID:8267567   PMID:8479490   PMID:8514744   PMID:8621513   PMID:8735975   PMID:8882880   PMID:8999963   PMID:9224808  
PMID:9322919   PMID:9402087   PMID:9581826   PMID:9711877   PMID:10477084   PMID:10561596   PMID:10644689   PMID:10694923   PMID:10749568   PMID:10770218   PMID:10820168   PMID:10858434  
PMID:10880054   PMID:11026555   PMID:11232028   PMID:11476731   PMID:11754100   PMID:11857925   PMID:11868598   PMID:11916004   PMID:11923476   PMID:12036966   PMID:12409230   PMID:12436935  
PMID:12473660   PMID:12477932   PMID:12482593   PMID:12900404   PMID:12960162   PMID:14757828   PMID:15319430   PMID:15319442   PMID:15452133   PMID:15489334   PMID:15782186   PMID:15872203  
PMID:16115624   PMID:16162341   PMID:16240160   PMID:16267275   PMID:16333859   PMID:16563128   PMID:16580609   PMID:16825342   PMID:16845277   PMID:17101063   PMID:17216256   PMID:17229917  
PMID:17389737   PMID:17626156   PMID:18048502   PMID:18199683   PMID:18240029   PMID:18288441   PMID:18323675   PMID:18358546   PMID:18578504   PMID:18726898   PMID:18753429   PMID:19086053  
PMID:19094077   PMID:19170711   PMID:19179480   PMID:19217806   PMID:19440390   PMID:19449677   PMID:19542240   PMID:19638944   PMID:19703807   PMID:19812297   PMID:19913121   PMID:19996159  
PMID:20159941   PMID:20237496   PMID:20301356   PMID:20389105   PMID:20403097   PMID:20628086   PMID:20683494   PMID:20974815   PMID:21056967   PMID:21574774   PMID:21575724   PMID:21873635  
PMID:21917732   PMID:22052024   PMID:22144672   PMID:22145481   PMID:22386940   PMID:22644838   PMID:22879391   PMID:22965914   PMID:23150186   PMID:23236378   PMID:23362144   PMID:23364801  
PMID:23604254   PMID:23762448   PMID:23935101   PMID:24026507   PMID:24556353   PMID:24628417   PMID:24944242   PMID:26131744   PMID:26244674   PMID:26795631   PMID:26974133   PMID:27117808  
PMID:27156763   PMID:27355191   PMID:27565746   PMID:27577218   PMID:27601473   PMID:29125546   PMID:29394883   PMID:29594432   PMID:29991464   PMID:30068530   PMID:31486901   PMID:31577731  
PMID:32073219   PMID:32296183   PMID:32413442   PMID:32486031   PMID:32499611   PMID:32554753   PMID:33009446  


Genomics

Comparative Map Data
AVPR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,902,531 - 153,907,166 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,902,625 - 153,907,166 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,168,079 - 153,172,620 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,823,564 - 152,825,834 (+)NCBINCBI36hg18NCBI36
Build 34X152,691,216 - 152,693,487NCBI
CeleraX153,401,665 - 153,406,333 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,789,000 - 141,824,020 (+)NCBIHuRef
CHM1_1X153,042,396 - 153,047,068 (+)NCBICHM1_1
Avpr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,935,371 - 72,938,034 (+)NCBIGRCm39mm39
GRCm39 EnsemblX72,935,708 - 72,939,108 (+)Ensembl
GRCm38X73,891,765 - 73,894,428 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,892,102 - 73,895,502 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,137,441 - 71,139,766 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,144,822 - 70,147,147 (+)NCBImm8
CeleraX65,144,532 - 65,146,857 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.46NCBI
Avpr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,633,501 - 151,636,000 (+)NCBI
Rnor_6.0 EnsemblX156,889,410 - 156,891,213 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,889,006 - 156,892,707 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,637,074 - 152,640,726 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,821,860 - 159,823,488 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X159,897,295 - 159,898,924 (+)NCBI
Celera1136,256,506 - 136,258,135 (-)NCBICelera
Cytogenetic MapXq37NCBI
Avpr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580583,480 - 586,456 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580583,827 - 586,739 (+)NCBIChiLan1.0ChiLan1.0
AVPR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,346,391 - 153,348,840 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,346,466 - 153,348,840 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,458,693 - 143,461,945 (+)NCBIMhudiblu_PPA_v0panPan3
AVPR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,751,606 - 121,754,771 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,752,027 - 121,754,771 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,081,538 - 107,083,529 (+)NCBI
ROS_Cfam_1.0X124,893,080 - 124,896,066 (+)NCBI
UMICH_Zoey_3.1X120,663,338 - 120,665,329 (+)NCBI
UNSW_CanFamBas_1.0X123,178,772 - 123,180,761 (+)NCBI
UU_Cfam_GSD_1.0X122,940,089 - 122,942,080 (+)NCBI
Avpr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,050,498 - 119,053,229 (+)NCBI
SpeTri2.0NW_004936809789,337 - 790,986 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AVPR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,638,523 - 124,644,630 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,638,433 - 124,640,969 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,203,013 - 142,205,697 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AVPR2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,328,728 - 128,331,482 (+)NCBI
ChlSab1.1 EnsemblX128,329,449 - 128,331,019 (+)Ensembl
Avpr2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946541,317 - 543,397 (+)NCBI

Position Markers
GDB:195164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,171,179 - 153,171,588UniSTSGRCh37
Build 36X152,824,373 - 152,824,782RGDNCBI36
CeleraX153,404,892 - 153,405,301RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,579 - 141,822,988UniSTS
GDB:210765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,171,941 - 153,172,210UniSTSGRCh37
Build 36X152,825,135 - 152,825,404RGDNCBI36
CeleraX153,405,654 - 153,405,923RGD
Cytogenetic MapXq28UniSTS
HuRefX141,823,341 - 141,823,610UniSTS
GDB:377315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,531 - 153,172,574UniSTSGRCh37
Build 36X152,823,725 - 152,825,768RGDNCBI36
CeleraX153,404,244 - 153,406,287RGD
Cytogenetic MapXq28UniSTS
HuRefX141,821,931 - 141,823,974UniSTS
GDB:574063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,372 - 153,172,434UniSTSGRCh37
Build 36X152,823,566 - 152,825,628RGDNCBI36
CeleraX153,404,085 - 153,406,147RGD
HuRefX141,821,771 - 141,823,834UniSTS
GDB:618098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,165 - 153,141,334UniSTSGRCh37
Build 36X152,794,359 - 152,794,528RGDNCBI36
CeleraX153,374,849 - 153,375,018RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,743 - 141,797,912UniSTS
GDB:618230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,957 - 153,138,210UniSTSGRCh37
Build 36X152,791,151 - 152,791,404RGDNCBI36
CeleraX153,371,641 - 153,371,894RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,473 - 141,794,726UniSTS
GDB:618289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,552 - 153,137,857UniSTSGRCh37
Build 36X152,790,746 - 152,791,051RGDNCBI36
CeleraX153,371,236 - 153,371,541RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,068 - 141,794,373UniSTS
GDB:618293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,206 - 153,136,665UniSTSGRCh37
Build 36X152,789,400 - 152,789,859RGDNCBI36
CeleraX153,369,890 - 153,370,349RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,722 - 141,793,181UniSTS
GDB:618341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,662 - 153,136,026UniSTSGRCh37
Build 36X152,788,856 - 152,789,220RGDNCBI36
CeleraX153,369,346 - 153,369,710RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,178 - 141,792,542UniSTS
GDB:618400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,469 - 153,135,749UniSTSGRCh37
Build 36X152,788,663 - 152,788,943RGDNCBI36
CeleraX153,369,153 - 153,369,433RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,985 - 141,792,265UniSTS
GDB:618484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,208 - 153,135,432UniSTSGRCh37
Build 36X152,788,402 - 152,788,626RGDNCBI36
CeleraX153,368,892 - 153,369,116RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,724 - 141,791,948UniSTS
GDB:618487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,920 - 153,135,170UniSTSGRCh37
Build 36X152,788,114 - 152,788,364RGDNCBI36
CeleraX153,368,604 - 153,368,854RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,436 - 141,791,686UniSTS
GDB:618831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,236 - 153,134,453UniSTSGRCh37
Build 36X152,787,430 - 152,787,647RGDNCBI36
CeleraX153,367,920 - 153,368,137RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,752 - 141,790,969UniSTS
GDB:618836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,970 - 153,134,228UniSTSGRCh37
Build 36X152,787,164 - 152,787,422RGDNCBI36
CeleraX153,367,654 - 153,367,912RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,486 - 141,790,744UniSTS
GDB:618842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,709 - 153,133,971UniSTSGRCh37
Build 36X152,786,903 - 152,787,165RGDNCBI36
CeleraX153,367,393 - 153,367,655RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,225 - 141,790,487UniSTS
GDB:618846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,552 - 153,138,801UniSTSGRCh37
Build 36X152,791,746 - 152,791,995RGDNCBI36
CeleraX153,372,236 - 153,372,485RGD
Cytogenetic MapXq28UniSTS
HuRefX141,795,068 - 141,795,317UniSTS
GDB:618849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,405 - 153,133,621UniSTSGRCh37
Build 36X152,786,599 - 152,786,815RGDNCBI36
CeleraX153,367,089 - 153,367,305RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,921 - 141,790,137UniSTS
GDB:618851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,206 - 153,133,441UniSTSGRCh37
Build 36X152,786,400 - 152,786,635RGDNCBI36
CeleraX153,366,890 - 153,367,125RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,722 - 141,789,957UniSTS
GDB:618866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,765 - 153,133,059UniSTSGRCh37
Build 36X152,785,959 - 152,786,253RGDNCBI36
CeleraX153,366,449 - 153,366,743RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,281 - 141,789,575UniSTS
GDB:619117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,443 - 153,132,636UniSTSGRCh37
Build 36X152,785,637 - 152,785,830RGDNCBI36
CeleraX153,366,127 - 153,366,320RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,959 - 141,789,152UniSTS
GDB:619157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,055 - 153,132,386UniSTSGRCh37
Build 36X152,785,249 - 152,785,580RGDNCBI36
CeleraX153,365,739 - 153,366,070RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,571 - 141,788,902UniSTS
GDB:619161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,096 - 153,131,318UniSTSGRCh37
Build 36X152,784,290 - 152,784,512RGDNCBI36
CeleraX153,364,780 - 153,365,002RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,612 - 141,787,834UniSTS
PMC314363P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,171,269 - 153,172,231UniSTSGRCh37
Build 36X152,824,463 - 152,825,425RGDNCBI36
CeleraX153,404,982 - 153,405,944RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,669 - 141,823,631UniSTS
ECD01496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,672 - 153,138,535UniSTSGRCh37
Build 36X152,790,866 - 152,791,729RGDNCBI36
CeleraX153,371,356 - 153,372,219RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,188 - 141,795,051UniSTS
ECD01556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,779 - 153,137,640UniSTSGRCh37
Build 36X152,789,973 - 152,790,834RGDNCBI36
CeleraX153,370,463 - 153,371,324RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,295 - 141,794,156UniSTS
ECD02153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,854 - 153,136,693UniSTSGRCh37
Build 36X152,789,048 - 152,789,887RGDNCBI36
CeleraX153,369,538 - 153,370,377RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,370 - 141,793,209UniSTS
ECD02342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,440 - 153,141,273UniSTSGRCh37
Build 36X152,793,634 - 152,794,467RGDNCBI36
CeleraX153,374,124 - 153,374,957RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,018 - 141,797,851UniSTS
ECD02453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,143,114 - 153,143,943UniSTSGRCh37
Build 36X152,796,308 - 152,797,137RGDNCBI36
CeleraX153,376,798 - 153,377,627RGD
Cytogenetic MapXq28UniSTS
HuRefX141,799,700 - 141,800,529UniSTS
ECD02523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,144,845 - 153,145,672UniSTSGRCh37
Build 36X152,798,039 - 152,798,866RGDNCBI36
CeleraX153,378,529 - 153,379,356RGD
Cytogenetic MapXq28UniSTS
HuRefX141,801,431 - 141,802,258UniSTS
ECD02899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,022 - 153,132,835UniSTSGRCh37
Build 36X152,785,216 - 152,786,029RGDNCBI36
CeleraX153,365,706 - 153,366,519RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,538 - 141,789,351UniSTS
ECD03345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,734 - 153,134,532UniSTSGRCh37
Build 36X152,786,928 - 152,787,726RGDNCBI36
CeleraX153,367,418 - 153,368,216RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,250 - 141,791,048UniSTS
ECD03740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,144,020 - 153,144,805UniSTSGRCh37
Build 36X152,797,214 - 152,797,999RGDNCBI36
CeleraX153,377,704 - 153,378,489RGD
Cytogenetic MapXq28UniSTS
HuRefX141,800,606 - 141,801,391UniSTS
ECD03920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,916 - 153,133,696UniSTSGRCh37
Build 36X152,786,110 - 152,786,890RGDNCBI36
CeleraX153,366,600 - 153,367,380RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,432 - 141,790,212UniSTS
ECD04156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,145,699 - 153,146,472UniSTSGRCh37
Build 36X152,798,893 - 152,799,666RGDNCBI36
CeleraX153,379,383 - 153,380,156RGD
Cytogenetic MapXq28UniSTS
HuRefX141,802,285 - 141,803,058UniSTS
ECD05771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,171,567 - 153,172,294UniSTSGRCh37
Build 36X152,824,761 - 152,825,488RGDNCBI36
CeleraX153,405,280 - 153,406,007RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,967 - 141,823,694UniSTS
ECD07151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,812 - 153,171,501UniSTSGRCh37
Build 36X152,824,006 - 152,824,695RGDNCBI36
CeleraX153,404,525 - 153,405,214RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,212 - 141,822,901UniSTS
ECD07297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,043 - 153,170,728UniSTSGRCh37
Build 36X152,823,237 - 152,823,922RGDNCBI36
CeleraX153,403,756 - 153,404,441RGD
Cytogenetic MapXq28UniSTS
HuRefX141,821,442 - 141,822,128UniSTS
ECD09270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,150,111 - 153,150,744UniSTSGRCh37
Build 36X152,803,305 - 152,803,938RGDNCBI36
CeleraX153,383,796 - 153,384,429RGD
Cytogenetic MapXq28UniSTS
HuRefX141,806,698 - 141,807,331UniSTS
ECD09625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,152,593 - 153,153,217UniSTSGRCh37
Build 36X152,805,787 - 152,806,411RGDNCBI36
CeleraX153,386,283 - 153,386,907RGD
Cytogenetic MapXq28UniSTS
HuRefX141,809,228 - 141,809,852UniSTS
ECD10046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,794 - 153,168,406UniSTSGRCh37
Build 36X152,820,988 - 152,821,600RGDNCBI36
CeleraX153,401,474 - 153,402,086RGD
Cytogenetic MapXq28UniSTS
HuRefX141,825,958 - 141,826,570UniSTS
ECD10500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,148,818 - 153,149,418UniSTSGRCh37
Build 36X152,802,012 - 152,802,612RGDNCBI36
CeleraX153,382,502 - 153,383,102RGD
Cytogenetic MapXq28UniSTS
HuRefX141,805,404 - 141,806,004UniSTS
ECD10726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,146,753 - 153,147,346UniSTSGRCh37
Build 36X152,799,947 - 152,800,540RGDNCBI36
CeleraX153,380,437 - 153,381,030RGD
Cytogenetic MapXq28UniSTS
HuRefX141,803,339 - 141,803,932UniSTS
ECD11568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,158,024 - 153,158,592UniSTSGRCh37
Build 36X152,811,218 - 152,811,786RGDNCBI36
CeleraX153,391,712 - 153,392,280RGD
Cytogenetic MapXq28UniSTS
HuRefX141,814,659 - 141,815,227UniSTS
ECD11601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,565 - 153,142,132UniSTSGRCh37
Build 36X152,794,759 - 152,795,326RGDNCBI36
CeleraX153,375,249 - 153,375,816RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,146 - 141,798,713UniSTS
ECD11602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,148,017 - 153,148,584UniSTSGRCh37
Build 36X152,801,211 - 152,801,778RGDNCBI36
CeleraX153,381,701 - 153,382,268RGD
Cytogenetic MapXq28UniSTS
HuRefX141,804,603 - 141,805,170UniSTS
ECD11671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,151,918 - 153,152,483UniSTSGRCh37
Build 36X152,805,112 - 152,805,677RGDNCBI36
CeleraX153,385,608 - 153,386,173RGD
Cytogenetic MapXq28UniSTS
HuRefX141,808,553 - 141,809,118UniSTS
ECD11882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,147,378 - 153,147,937UniSTSGRCh37
Build 36X152,800,572 - 152,801,131RGDNCBI36
CeleraX153,381,062 - 153,381,621RGD
Cytogenetic MapXq28UniSTS
HuRefX141,803,964 - 141,804,523UniSTS
ECD12014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,155,984 - 153,156,539UniSTSGRCh37
Build 36X152,809,178 - 152,809,733RGDNCBI36
CeleraX153,389,674 - 153,390,229RGD
Cytogenetic MapXq28UniSTS
HuRefX141,812,619 - 141,813,174UniSTS
ECD13259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,166,354 - 153,166,876UniSTSGRCh37
Build 36X152,819,548 - 152,820,070RGDNCBI36
CeleraX153,400,034 - 153,400,556RGD
Cytogenetic MapXq28UniSTS
ECD13701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,280 - 153,135,791UniSTSGRCh37
Build 36X152,788,474 - 152,788,985RGDNCBI36
CeleraX153,368,964 - 153,369,475RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,796 - 141,792,307UniSTS
ECD13942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,691 - 153,135,196UniSTSGRCh37
Build 36X152,787,885 - 152,788,390RGDNCBI36
CeleraX153,368,375 - 153,368,880RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,207 - 141,791,712UniSTS
ECD14724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,150 - 153,167,637UniSTSGRCh37
GRCh37X153,167,104 - 153,167,637UniSTSGRCh37
Build 36X152,820,298 - 152,820,831RGDNCBI36
CeleraX153,400,784 - 153,401,317RGD
CeleraX153,400,830 - 153,401,317UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,825,268 - 141,825,801UniSTS
HuRefX141,825,314 - 141,825,801UniSTS
ECD17631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,169,422 - 153,169,812UniSTSGRCh37
Build 36X152,822,616 - 152,823,006RGDNCBI36
CeleraX153,403,135 - 153,403,525RGD
Cytogenetic MapXq28UniSTS
ECD18979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,153,727 - 153,154,066UniSTSGRCh37
Build 36X152,806,921 - 152,807,260RGDNCBI36
CeleraX153,387,417 - 153,387,756RGD
Cytogenetic MapXq28UniSTS
HuRefX141,810,362 - 141,810,701UniSTS
ECD20301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,159,338 - 153,159,627UniSTSGRCh37
Build 36X152,812,532 - 152,812,821RGDNCBI36
CeleraX153,393,018 - 153,393,307RGD
Cytogenetic MapXq28UniSTS
HuRefX141,815,965 - 141,816,254UniSTS
ECD20980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,161,941 - 153,162,206UniSTSGRCh37
Build 36X152,815,135 - 152,815,400RGDNCBI36
CeleraX153,395,621 - 153,395,886RGD
Cytogenetic MapXq28UniSTS
HuRefX141,818,485 - 141,818,750UniSTS
ECD23199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,608 - 153,168,804UniSTSGRCh37
Build 36X152,821,802 - 152,821,998RGDNCBI36
CeleraX153,402,288 - 153,402,484RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,772 - 141,826,968UniSTS
ECD23558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,169,080 - 153,169,265UniSTSGRCh37
Build 36X152,822,274 - 152,822,459RGDNCBI36
CeleraX153,402,793 - 153,402,978RGD
Cytogenetic MapXq28UniSTS
ECD23787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,149,681 - 153,149,857UniSTSGRCh37
Build 36X152,802,875 - 152,803,051RGDNCBI36
CeleraX153,383,365 - 153,383,542RGD
Cytogenetic MapXq28UniSTS
HuRefX141,806,267 - 141,806,444UniSTS
REN87936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,761 - 153,130,985UniSTSGRCh37
Build 36X152,783,955 - 152,784,179RGDNCBI36
CeleraX153,364,445 - 153,364,669RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,277 - 141,787,501UniSTS
REN87937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,951 - 153,131,175UniSTSGRCh37
Build 36X152,784,145 - 152,784,369RGDNCBI36
CeleraX153,364,635 - 153,364,859RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,467 - 141,787,691UniSTS
REN87938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,154 - 153,131,408UniSTSGRCh37
Build 36X152,784,348 - 152,784,602RGDNCBI36
CeleraX153,364,838 - 153,365,092RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,670 - 141,787,924UniSTS
REN87939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,378 - 153,131,614UniSTSGRCh37
Build 36X152,784,572 - 152,784,808RGDNCBI36
CeleraX153,365,062 - 153,365,298RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,894 - 141,788,130UniSTS
REN87940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,591 - 153,131,860UniSTSGRCh37
Build 36X152,784,785 - 152,785,054RGDNCBI36
CeleraX153,365,275 - 153,365,544RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,107 - 141,788,376UniSTS
REN87941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,850 - 153,132,074UniSTSGRCh37
Build 36X152,785,044 - 152,785,268RGDNCBI36
CeleraX153,365,534 - 153,365,758RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,366 - 141,788,590UniSTS
REN87942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,023 - 153,132,249UniSTSGRCh37
Build 36X152,785,217 - 152,785,443RGDNCBI36
CeleraX153,365,707 - 153,365,933RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,539 - 141,788,765UniSTS
REN87943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,219 - 153,132,467UniSTSGRCh37
Build 36X152,785,413 - 152,785,661RGDNCBI36
CeleraX153,365,903 - 153,366,151RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,735 - 141,788,983UniSTS
REN87944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,447 - 153,132,672UniSTSGRCh37
Build 36X152,785,641 - 152,785,866RGDNCBI36
CeleraX153,366,131 - 153,366,356RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,963 - 141,789,188UniSTS
REN87945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,662 - 153,132,909UniSTSGRCh37
Build 36X152,785,856 - 152,786,103RGDNCBI36
CeleraX153,366,346 - 153,366,593RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,178 - 141,789,425UniSTS
REN87946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,883 - 153,133,128UniSTSGRCh37
Build 36X152,786,077 - 152,786,322RGDNCBI36
CeleraX153,366,567 - 153,366,812RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,399 - 141,789,644UniSTS
REN87947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,066 - 153,133,295UniSTSGRCh37
Build 36X152,786,260 - 152,786,489RGDNCBI36
CeleraX153,366,750 - 153,366,979RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,582 - 141,789,811UniSTS
REN87948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,276 - 153,133,536UniSTSGRCh37
Build 36X152,786,470 - 152,786,730RGDNCBI36
CeleraX153,366,960 - 153,367,220RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,792 - 141,790,052UniSTS
REN87949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,530 - 153,133,767UniSTSGRCh37
Build 36X152,786,724 - 152,786,961RGDNCBI36
CeleraX153,367,214 - 153,367,451RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,046 - 141,790,283UniSTS
REN87950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,761 - 153,134,028UniSTSGRCh37
Build 36X152,786,955 - 152,787,222RGDNCBI36
CeleraX153,367,445 - 153,367,712RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,277 - 141,790,544UniSTS
REN87951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,935 - 153,134,181UniSTSGRCh37
Build 36X152,787,129 - 152,787,375RGDNCBI36
CeleraX153,367,619 - 153,367,865RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,451 - 141,790,697UniSTS
REN87952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,145 - 153,134,396UniSTSGRCh37
Build 36X152,787,339 - 152,787,590RGDNCBI36
CeleraX153,367,829 - 153,368,080RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,661 - 141,790,912UniSTS
REN87953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,367 - 153,134,631UniSTSGRCh37
Build 36X152,787,561 - 152,787,825RGDNCBI36
CeleraX153,368,051 - 153,368,315RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,883 - 141,791,147UniSTS
REN87955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,831 - 153,135,062UniSTSGRCh37
Build 36X152,788,025 - 152,788,256RGDNCBI36
CeleraX153,368,515 - 153,368,746RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,347 - 141,791,578UniSTS
REN87956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,043 - 153,135,296UniSTSGRCh37
Build 36X152,788,237 - 152,788,490RGDNCBI36
CeleraX153,368,727 - 153,368,980RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,559 - 141,791,812UniSTS
REN87957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,268 - 153,135,529UniSTSGRCh37
Build 36X152,788,462 - 152,788,723RGDNCBI36
CeleraX153,368,952 - 153,369,213RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,784 - 141,792,045UniSTS
REN87958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,506 - 153,135,738UniSTSGRCh37
Build 36X152,788,700 - 152,788,932RGDNCBI36
CeleraX153,369,190 - 153,369,422RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,022 - 141,792,254UniSTS
REN87959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,731 - 153,135,969UniSTSGRCh37
Build 36X152,788,925 - 152,789,163RGDNCBI36
CeleraX153,369,415 - 153,369,653RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,247 - 141,792,485UniSTS
REN87960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,931 - 153,136,182UniSTSGRCh37
Build 36X152,789,125 - 152,789,376RGDNCBI36
CeleraX153,369,615 - 153,369,866RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,447 - 141,792,698UniSTS
REN87961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,159 - 153,136,418UniSTSGRCh37
Build 36X152,789,353 - 152,789,612RGDNCBI36
CeleraX153,369,843 - 153,370,102RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,675 - 141,792,934UniSTS
REN87962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,393 - 153,136,625UniSTSGRCh37
Build 36X152,789,587 - 152,789,819RGDNCBI36
CeleraX153,370,077 - 153,370,309RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,909 - 141,793,141UniSTS
REN87963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,598 - 153,136,838UniSTSGRCh37
Build 36X152,789,792 - 152,790,032RGDNCBI36
CeleraX153,370,282 - 153,370,522RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,114 - 141,793,354UniSTS
REN87964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,804 - 153,137,045UniSTSGRCh37
Build 36X152,789,998 - 152,790,239RGDNCBI36
CeleraX153,370,488 - 153,370,729RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,320 - 141,793,561UniSTS
REN87965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,027 - 153,137,267UniSTSGRCh37
Build 36X152,790,221 - 152,790,461RGDNCBI36
CeleraX153,370,711 - 153,370,951RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,543 - 141,793,783UniSTS
REN87966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,243 - 153,137,467UniSTSGRCh37
Build 36X152,790,437 - 152,790,661RGDNCBI36
CeleraX153,370,927 - 153,371,151RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,759 - 141,793,983UniSTS
REN87967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,455 - 153,137,710UniSTSGRCh37
Build 36X152,790,649 - 152,790,904RGDNCBI36
CeleraX153,371,139 - 153,371,394RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,971 - 141,794,226UniSTS
REN87968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,683 - 153,137,952UniSTSGRCh37
Build 36X152,790,877 - 152,791,146RGDNCBI36
CeleraX153,371,367 - 153,371,636RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,199 - 141,794,468UniSTS
REN87969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,930 - 153,138,171UniSTSGRCh37
Build 36X152,791,124 - 152,791,365RGDNCBI36
CeleraX153,371,614 - 153,371,855RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,446 - 141,794,687UniSTS
REN87970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,148 - 153,138,397UniSTSGRCh37
Build 36X152,791,342 - 152,791,591RGDNCBI36
CeleraX153,371,832 - 153,372,081RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,664 - 141,794,913UniSTS
REN87971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,351 - 153,138,575UniSTSGRCh37
Build 36X152,791,545 - 152,791,769RGDNCBI36
CeleraX153,372,035 - 153,372,259RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,867 - 141,795,091UniSTS
REN87972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,546 - 153,138,789UniSTSGRCh37
Build 36X152,791,740 - 152,791,983RGDNCBI36
CeleraX153,372,230 - 153,372,473RGD
Cytogenetic MapXq28UniSTS
HuRefX141,795,062 - 141,795,305UniSTS
REN87973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,767 - 153,139,034UniSTSGRCh37
Build 36X152,791,961 - 152,792,228RGDNCBI36
CeleraX153,372,451 - 153,372,718RGD
Cytogenetic MapXq28UniSTS
HuRefX141,795,283 - 141,795,550UniSTS
REN87974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,996 - 153,139,250UniSTSGRCh37
Build 36X152,792,190 - 152,792,444RGDNCBI36
CeleraX153,372,680 - 153,372,934RGD
Cytogenetic MapXq28UniSTS
HuRefX141,795,512 - 141,795,766UniSTS
REN87980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,350 - 153,140,588UniSTSGRCh37
Build 36X152,793,544 - 152,793,782RGDNCBI36
CeleraX153,374,034 - 153,374,272RGD
Cytogenetic MapXq28UniSTS
HuRefX141,796,928 - 141,797,166UniSTS
REN87981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,566 - 153,140,799UniSTSGRCh37
Build 36X152,793,760 - 152,793,993RGDNCBI36
CeleraX153,374,250 - 153,374,483RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,144 - 141,797,377UniSTS
REN87982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,798 - 153,141,050UniSTSGRCh37
Build 36X152,793,992 - 152,794,244RGDNCBI36
CeleraX153,374,482 - 153,374,734RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,376 - 141,797,628UniSTS
REN87983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,029 - 153,141,274UniSTSGRCh37
Build 36X152,794,223 - 152,794,468RGDNCBI36
CeleraX153,374,713 - 153,374,958RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,607 - 141,797,852UniSTS
REN87984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,256 - 153,141,486UniSTSGRCh37
Build 36X152,794,450 - 152,794,680RGDNCBI36
CeleraX153,374,940 - 153,375,170RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,834 - 141,798,064UniSTS
REN87985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,445 - 153,141,687UniSTSGRCh37
Build 36X152,794,639 - 152,794,881RGDNCBI36
CeleraX153,375,129 - 153,375,371RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,023 - 141,798,268UniSTS
REN87986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,680 - 153,141,906UniSTSGRCh37
Build 36X152,794,874 - 152,795,100RGDNCBI36
CeleraX153,375,364 - 153,375,590RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,261 - 141,798,487UniSTS
REN87987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,873 - 153,142,134UniSTSGRCh37
Build 36X152,795,067 - 152,795,328RGDNCBI36
CeleraX153,375,557 - 153,375,818RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,454 - 141,798,715UniSTS
REN87989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,143,087 - 153,143,324UniSTSGRCh37
Build 36X152,796,281 - 152,796,518RGDNCBI36
CeleraX153,376,771 - 153,377,008RGD
Cytogenetic MapXq28UniSTS
HuRefX141,799,673 - 141,799,910UniSTS
REN87990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,143,269 - 153,143,527UniSTSGRCh37
Build 36X152,796,463 - 152,796,721RGDNCBI36
CeleraX153,376,953 - 153,377,211RGD
Cytogenetic MapXq28UniSTS
HuRefX141,799,855 - 141,800,113UniSTS
REN87991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,143,504 - 153,143,772UniSTSGRCh37
Build 36X152,796,698 - 152,796,966RGDNCBI36
CeleraX153,377,188 - 153,377,456RGD
Cytogenetic MapXq28UniSTS
HuRefX141,800,090 - 141,800,358UniSTS
REN87992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,143,738 - 153,143,986UniSTSGRCh37
Build 36X152,796,932 - 152,797,180RGDNCBI36
CeleraX153,377,422 - 153,377,670RGD
Cytogenetic MapXq28UniSTS
HuRefX141,800,324 - 141,800,572UniSTS
REN87993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,143,964 - 153,144,201UniSTSGRCh37
Build 36X152,797,158 - 152,797,395RGDNCBI36
CeleraX153,377,648 - 153,377,885RGD
Cytogenetic MapXq28UniSTS
HuRefX141,800,550 - 141,800,787UniSTS
REN87995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,144,408 - 153,144,632UniSTSGRCh37
Build 36X152,797,602 - 152,797,826RGDNCBI36
CeleraX153,378,092 - 153,378,316RGD
Cytogenetic MapXq28UniSTS
HuRefX141,800,994 - 141,801,218UniSTS
REN87996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,144,615 - 153,144,873UniSTSGRCh37
Build 36X152,797,809 - 152,798,067RGDNCBI36
CeleraX153,378,299 - 153,378,557RGD
Cytogenetic MapXq28UniSTS
HuRefX141,801,201 - 141,801,459UniSTS
REN87997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,144,850 - 153,145,102UniSTSGRCh37
Build 36X152,798,044 - 152,798,296RGDNCBI36
CeleraX153,378,534 - 153,378,786RGD
Cytogenetic MapXq28UniSTS
HuRefX141,801,436 - 141,801,688UniSTS
REN87998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,145,094 - 153,145,343UniSTSGRCh37
Build 36X152,798,288 - 152,798,537RGDNCBI36
CeleraX153,378,778 - 153,379,027RGD
Cytogenetic MapXq28UniSTS
HuRefX141,801,680 - 141,801,929UniSTS
REN87999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,145,331 - 153,145,593UniSTSGRCh37
Build 36X152,798,525 - 152,798,787RGDNCBI36
CeleraX153,379,015 - 153,379,277RGD
Cytogenetic MapXq28UniSTS
HuRefX141,801,917 - 141,802,179UniSTS
REN88000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,145,582 - 153,145,837UniSTSGRCh37
Build 36X152,798,776 - 152,799,031RGDNCBI36
CeleraX153,379,266 - 153,379,521RGD
Cytogenetic MapXq28UniSTS
HuRefX141,802,168 - 141,802,423UniSTS
REN88001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,145,820 - 153,146,062UniSTSGRCh37
Build 36X152,799,014 - 152,799,256RGDNCBI36
CeleraX153,379,504 - 153,379,746RGD
Cytogenetic MapXq28UniSTS
HuRefX141,802,406 - 141,802,648UniSTS
REN88002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,146,039 - 153,146,299UniSTSGRCh37
Build 36X152,799,233 - 152,799,493RGDNCBI36
CeleraX153,379,723 - 153,379,983RGD
Cytogenetic MapXq28UniSTS
HuRefX141,802,625 - 141,802,885UniSTS
REN88003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,146,273 - 153,146,503UniSTSGRCh37
Build 36X152,799,467 - 152,799,697RGDNCBI36
CeleraX153,379,957 - 153,380,187RGD
Cytogenetic MapXq28UniSTS
HuRefX141,802,859 - 141,803,089UniSTS
REN88004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,146,471 - 153,146,721UniSTSGRCh37
Build 36X152,799,665 - 152,799,915RGDNCBI36
CeleraX153,380,155 - 153,380,405RGD
Cytogenetic MapXq28UniSTS
HuRefX141,803,057 - 141,803,307UniSTS
REN88005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,146,695 - 153,146,960UniSTSGRCh37
Build 36X152,799,889 - 152,800,154RGDNCBI36
CeleraX153,380,379 - 153,380,644RGD
Cytogenetic MapXq28UniSTS
HuRefX141,803,281 - 141,803,546UniSTS
REN88006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,146,939 - 153,147,169UniSTSGRCh37
Build 36X152,800,133 - 152,800,363RGDNCBI36
CeleraX153,380,623 - 153,380,853RGD
Cytogenetic MapXq28UniSTS
HuRefX141,803,525 - 141,803,755UniSTS
REN88007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,147,146 - 153,147,391UniSTSGRCh37
Build 36X152,800,340 - 152,800,585RGDNCBI36
CeleraX153,380,830 - 153,381,075RGD
Cytogenetic MapXq28UniSTS
HuRefX141,803,732 - 141,803,977UniSTS
REN88008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,147,354 - 153,147,583UniSTSGRCh37
Build 36X152,800,548 - 152,800,777RGDNCBI36
CeleraX153,381,038 - 153,381,267RGD
Cytogenetic MapXq28UniSTS
HuRefX141,803,940 - 141,804,169UniSTS
REN88009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,147,555 - 153,147,807UniSTSGRCh37
Build 36X152,800,749 - 152,801,001RGDNCBI36
CeleraX153,381,239 - 153,381,491RGD
Cytogenetic MapXq28UniSTS
HuRefX141,804,141 - 141,804,393UniSTS
REN88010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,147,784 - 153,148,032UniSTSGRCh37
Build 36X152,800,978 - 152,801,226RGDNCBI36
CeleraX153,381,468 - 153,381,716RGD
Cytogenetic MapXq28UniSTS
HuRefX141,804,370 - 141,804,618UniSTS
REN88011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,148,010 - 153,148,257UniSTSGRCh37
Build 36X152,801,204 - 152,801,451RGDNCBI36
CeleraX153,381,694 - 153,381,941RGD
Cytogenetic MapXq28UniSTS
HuRefX141,804,596 - 141,804,843UniSTS
REN88012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,148,244 - 153,148,490UniSTSGRCh37
Build 36X152,801,438 - 152,801,684RGDNCBI36
CeleraX153,381,928 - 153,382,174RGD
Cytogenetic MapXq28UniSTS
HuRefX141,804,830 - 141,805,076UniSTS
REN88013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,148,472 - 153,148,708UniSTSGRCh37
Build 36X152,801,666 - 152,801,902RGDNCBI36
CeleraX153,382,156 - 153,382,392RGD
Cytogenetic MapXq28UniSTS
HuRefX141,805,058 - 141,805,294UniSTS
REN88014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,148,705 - 153,148,960UniSTSGRCh37
Build 36X152,801,899 - 152,802,154RGDNCBI36
CeleraX153,382,389 - 153,382,644RGD
Cytogenetic MapXq28UniSTS
HuRefX141,805,291 - 141,805,546UniSTS
REN88015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,148,942 - 153,149,209UniSTSGRCh37
Build 36X152,802,136 - 152,802,403RGDNCBI36
CeleraX153,382,626 - 153,382,893RGD
Cytogenetic MapXq28UniSTS
HuRefX141,805,528 - 141,805,795UniSTS
REN88016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,149,205 - 153,149,447UniSTSGRCh37
Build 36X152,802,399 - 152,802,641RGDNCBI36
CeleraX153,382,889 - 153,383,131RGD
Cytogenetic MapXq28UniSTS
HuRefX141,805,791 - 141,806,033UniSTS
REN88017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,149,424 - 153,149,680UniSTSGRCh37
Build 36X152,802,618 - 152,802,874RGDNCBI36
CeleraX153,383,108 - 153,383,364RGD
Cytogenetic MapXq28UniSTS
HuRefX141,806,010 - 141,806,266UniSTS
REN88018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,149,614 - 153,149,844UniSTSGRCh37
Build 36X152,802,808 - 152,803,038RGDNCBI36
CeleraX153,383,298 - 153,383,529RGD
Cytogenetic MapXq28UniSTS
HuRefX141,806,200 - 141,806,431UniSTS
REN88020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,150,023 - 153,150,289UniSTSGRCh37
Build 36X152,803,217 - 152,803,483RGDNCBI36
CeleraX153,383,708 - 153,383,974RGD
Cytogenetic MapXq28UniSTS
HuRefX141,806,610 - 141,806,876UniSTS
REN88021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,150,262 - 153,150,500UniSTSGRCh37
Build 36X152,803,456 - 152,803,694RGDNCBI36
CeleraX153,383,947 - 153,384,185RGD
Cytogenetic MapXq28UniSTS
HuRefX141,806,849 - 141,807,087UniSTS
REN88022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,150,477 - 153,150,742UniSTSGRCh37
Build 36X152,803,671 - 152,803,936RGDNCBI36
CeleraX153,384,162 - 153,384,427RGD
Cytogenetic MapXq28UniSTS
HuRefX141,807,064 - 141,807,329UniSTS
REN88023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,150,733 - 153,151,000UniSTSGRCh37
Build 36X152,803,927 - 152,804,194RGDNCBI36
CeleraX153,384,418 - 153,384,685RGD
Cytogenetic MapXq28UniSTS
HuRefX141,807,320 - 141,807,587UniSTS
REN88024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,150,921 - 153,151,173UniSTSGRCh37
Build 36X152,804,115 - 152,804,367RGDNCBI36
CeleraX153,384,606 - 153,384,858RGD
Cytogenetic MapXq28UniSTS
HuRefX141,807,508 - 141,807,760UniSTS
REN88025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,151,058 - 153,151,303UniSTSGRCh37
Build 36X152,804,252 - 152,804,497RGDNCBI36
CeleraX153,384,743 - 153,384,989RGD
Cytogenetic MapXq28UniSTS
HuRefX141,807,645 - 141,807,891UniSTS
REN88028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,152,136 - 153,152,364UniSTSGRCh37
Build 36X152,805,330 - 152,805,558RGDNCBI36
CeleraX153,385,826 - 153,386,054RGD
Cytogenetic MapXq28UniSTS
HuRefX141,808,771 - 141,808,999UniSTS
REN88029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,152,341 - 153,152,591UniSTSGRCh37
Build 36X152,805,535 - 152,805,785RGDNCBI36
CeleraX153,386,031 - 153,386,281RGD
Cytogenetic MapXq28UniSTS
HuRefX141,808,976 - 141,809,226UniSTS
REN88030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,152,541 - 153,152,765UniSTSGRCh37
Build 36X152,805,735 - 152,805,959RGDNCBI36
CeleraX153,386,231 - 153,386,455RGD
Cytogenetic MapXq28UniSTS
HuRefX141,809,176 - 141,809,400UniSTS
REN88031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,152,743 - 153,153,013UniSTSGRCh37
Build 36X152,805,937 - 152,806,207RGDNCBI36
CeleraX153,386,433 - 153,386,703RGD
Cytogenetic MapXq28UniSTS
HuRefX141,809,378 - 141,809,648UniSTS
REN88032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,153,000 - 153,153,253UniSTSGRCh37
Build 36X152,806,194 - 152,806,447RGDNCBI36
CeleraX153,386,690 - 153,386,943RGD
Cytogenetic MapXq28UniSTS
HuRefX141,809,635 - 141,809,888UniSTS
REN88033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,153,226 - 153,153,471UniSTSGRCh37
Build 36X152,806,420 - 152,806,665RGDNCBI36
CeleraX153,386,916 - 153,387,161RGD
Cytogenetic MapXq28UniSTS
HuRefX141,809,861 - 141,810,106UniSTS
REN88034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,153,456 - 153,153,692UniSTSGRCh37
Build 36X152,806,650 - 152,806,886RGDNCBI36
CeleraX153,387,146 - 153,387,382RGD
Cytogenetic MapXq28UniSTS
HuRefX141,810,091 - 141,810,327UniSTS
REN88035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,153,676 - 153,153,919UniSTSGRCh37
Build 36X152,806,870 - 152,807,113RGDNCBI36
CeleraX153,387,366 - 153,387,609RGD
Cytogenetic MapXq28UniSTS
HuRefX141,810,311 - 141,810,554UniSTS
REN88036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,153,892 - 153,154,149UniSTSGRCh37
Build 36X152,807,086 - 152,807,343RGDNCBI36
CeleraX153,387,582 - 153,387,839RGD
Cytogenetic MapXq28UniSTS
HuRefX141,810,527 - 141,810,784UniSTS
REN88037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,154,036 - 153,154,266UniSTSGRCh37
Build 36X152,807,230 - 152,807,460RGDNCBI36
CeleraX153,387,726 - 153,387,956RGD
Cytogenetic MapXq28UniSTS
HuRefX141,810,671 - 141,810,901UniSTS
REN88038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,154,504 - 153,154,773UniSTSGRCh37
Build 36X152,807,698 - 152,807,967RGDNCBI36
CeleraX153,388,194 - 153,388,463RGD
Cytogenetic MapXq28UniSTS
HuRefX141,811,139 - 141,811,408UniSTS
REN88039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,154,754 - 153,155,004UniSTSGRCh37
Build 36X152,807,948 - 152,808,198RGDNCBI36
CeleraX153,388,444 - 153,388,694RGD
Cytogenetic MapXq28UniSTS
HuRefX141,811,389 - 141,811,639UniSTS
REN88040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,154,920 - 153,155,157UniSTSGRCh37
Build 36X152,808,114 - 152,808,351RGDNCBI36
CeleraX153,388,610 - 153,388,847RGD
Cytogenetic MapXq28UniSTS
HuRefX141,811,555 - 141,811,792UniSTS
REN88041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,155,042 - 153,155,287UniSTSGRCh37
Build 36X152,808,236 - 152,808,481RGDNCBI36
CeleraX153,388,732 - 153,388,977RGD
Cytogenetic MapXq28UniSTS
HuRefX141,811,677 - 141,811,922UniSTS
REN88042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,155,249 - 153,155,475UniSTSGRCh37
Build 36X152,808,443 - 152,808,669RGDNCBI36
CeleraX153,388,939 - 153,389,165RGD
Cytogenetic MapXq28UniSTS
HuRefX141,811,884 - 141,812,110UniSTS
REN88043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,155,436 - 153,155,660UniSTSGRCh37
Build 36X152,808,630 - 152,808,854RGDNCBI36
CeleraX153,389,126 - 153,389,350RGD
Cytogenetic MapXq28UniSTS
HuRefX141,812,071 - 141,812,295UniSTS
REN88044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,155,569 - 153,155,814UniSTSGRCh37
Build 36X152,808,763 - 152,809,008RGDNCBI36
CeleraX153,389,259 - 153,389,504RGD
Cytogenetic MapXq28UniSTS
HuRefX141,812,204 - 141,812,449UniSTS
REN88045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,155,791 - 153,156,046UniSTSGRCh37
Build 36X152,808,985 - 152,809,240RGDNCBI36
CeleraX153,389,481 - 153,389,736RGD
Cytogenetic MapXq28UniSTS
HuRefX141,812,426 - 141,812,681UniSTS
REN88046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,156,023 - 153,156,290UniSTSGRCh37
Build 36X152,809,217 - 152,809,484RGDNCBI36
CeleraX153,389,713 - 153,389,980RGD
Cytogenetic MapXq28UniSTS
HuRefX141,812,658 - 141,812,925UniSTS
REN88047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,156,275 - 153,156,528UniSTSGRCh37
Build 36X152,809,469 - 152,809,722RGDNCBI36
CeleraX153,389,965 - 153,390,218RGD
Cytogenetic MapXq28UniSTS
HuRefX141,812,910 - 141,813,163UniSTS
REN88049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,156,565 - 153,156,795UniSTSGRCh37
Build 36X152,809,759 - 152,809,989RGDNCBI36
CeleraX153,390,255 - 153,390,485RGD
Cytogenetic MapXq28UniSTS
HuRefX141,813,200 - 141,813,430UniSTS
REN88051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,157,419 - 153,157,655UniSTSGRCh37
Build 36X152,810,613 - 152,810,849RGDNCBI36
CeleraX153,391,109 - 153,391,345RGD
Cytogenetic MapXq28UniSTS
HuRefX141,814,054 - 141,814,290UniSTS
REN88052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,157,640 - 153,157,903UniSTSGRCh37
Build 36X152,810,834 - 152,811,097RGDNCBI36
CeleraX153,391,330 - 153,391,591RGD
Cytogenetic MapXq28UniSTS
HuRefX141,814,275 - 141,814,538UniSTS
REN88053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,157,882 - 153,158,131UniSTSGRCh37
Build 36X152,811,076 - 152,811,325RGDNCBI36
CeleraX153,391,570 - 153,391,819RGD
Cytogenetic MapXq28UniSTS
HuRefX141,814,517 - 141,814,766UniSTS
REN88054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,158,109 - 153,158,364UniSTSGRCh37
Build 36X152,811,303 - 152,811,558RGDNCBI36
CeleraX153,391,797 - 153,392,052RGD
Cytogenetic MapXq28UniSTS
HuRefX141,814,744 - 141,814,999UniSTS
REN88055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,158,312 - 153,158,579UniSTSGRCh37
Build 36X152,811,506 - 152,811,773RGDNCBI36
CeleraX153,392,000 - 153,392,267RGD
Cytogenetic MapXq28UniSTS
HuRefX141,814,947 - 141,815,214UniSTS
REN88057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,158,667 - 153,158,904UniSTSGRCh37
Build 36X152,811,861 - 152,812,098RGDNCBI36
CeleraX153,392,355 - 153,392,592RGD
Cytogenetic MapXq28UniSTS
HuRefX141,815,302 - 141,815,539UniSTS
REN88058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,158,885 - 153,159,132UniSTSGRCh37
Build 36X152,812,079 - 152,812,326RGDNCBI36
CeleraX153,392,573 - 153,392,812RGD
Cytogenetic MapXq28UniSTS
HuRefX141,815,520 - 141,815,759UniSTS
REN88059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,159,123 - 153,159,365UniSTSGRCh37
Build 36X152,812,317 - 152,812,559RGDNCBI36
CeleraX153,392,803 - 153,393,045RGD
Cytogenetic MapXq28UniSTS
HuRefX141,815,750 - 141,815,992UniSTS
REN88060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,159,348 - 153,159,611UniSTSGRCh37
Build 36X152,812,542 - 152,812,805RGDNCBI36
CeleraX153,393,028 - 153,393,291RGD
Cytogenetic MapXq28UniSTS
HuRefX141,815,975 - 141,816,238UniSTS
REN88061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,159,607 - 153,159,875UniSTSGRCh37
Build 36X152,812,801 - 152,813,069RGDNCBI36
CeleraX153,393,287 - 153,393,555RGD
Cytogenetic MapXq28UniSTS
HuRefX141,816,234 - 141,816,502UniSTS
REN88062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,159,844 - 153,160,103UniSTSGRCh37
Build 36X152,813,038 - 152,813,297RGDNCBI36
CeleraX153,393,524 - 153,393,783RGD
Cytogenetic MapXq28UniSTS
HuRefX141,816,471 - 141,816,730UniSTS
REN88063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,160,085 - 153,160,329UniSTSGRCh37
Build 36X152,813,279 - 152,813,523RGDNCBI36
CeleraX153,393,765 - 153,394,009RGD
Cytogenetic MapXq28UniSTS
HuRefX141,816,712 - 141,816,956UniSTS
REN88064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,160,303 - 153,160,574UniSTSGRCh37
Build 36X152,813,497 - 152,813,768RGDNCBI36
CeleraX153,393,983 - 153,394,254RGD
Cytogenetic MapXq28UniSTS
HuRefX141,816,930 - 141,817,201UniSTS
REN88065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,160,571 - 153,160,841UniSTSGRCh37
Build 36X152,813,765 - 152,814,035RGDNCBI36
CeleraX153,394,251 - 153,394,521RGD
Cytogenetic MapXq28UniSTS
HuRefX141,817,198 - 141,817,468UniSTS
REN88068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,161,535 - 153,161,787UniSTSGRCh37
Build 36X152,814,729 - 152,814,981RGDNCBI36
CeleraX153,395,215 - 153,395,467RGD
Cytogenetic MapXq28UniSTS
HuRefX141,818,079 - 141,818,331UniSTS
REN88069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,161,770 - 153,162,021UniSTSGRCh37
Build 36X152,814,964 - 152,815,215RGDNCBI36
CeleraX153,395,450 - 153,395,701RGD
Cytogenetic MapXq28UniSTS
HuRefX141,818,314 - 141,818,565UniSTS
REN88070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,162,019 - 153,162,276UniSTSGRCh37
Build 36X152,815,213 - 152,815,470RGDNCBI36
CeleraX153,395,699 - 153,395,956RGD
Cytogenetic MapXq28UniSTS
HuRefX141,818,563 - 141,818,820UniSTS
REN88071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,162,244 - 153,162,496UniSTSGRCh37
Build 36X152,815,438 - 152,815,690RGDNCBI36
CeleraX153,395,924 - 153,396,176RGD
Cytogenetic MapXq28UniSTS
HuRefX141,818,788 - 141,819,040UniSTS
REN88074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,163,412 - 153,163,674UniSTSGRCh37
Build 36X152,816,606 - 152,816,868RGDNCBI36
CeleraX153,397,092 - 153,397,354RGD
Cytogenetic MapXq28UniSTS
HuRefX141,819,840 - 141,820,100UniSTS
REN88075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,163,653 - 153,163,896UniSTSGRCh37
Build 36X152,816,847 - 152,817,090RGDNCBI36
CeleraX153,397,333 - 153,397,576RGD
Cytogenetic MapXq28UniSTS
HuRefX141,820,079 - 141,820,322UniSTS
REN88076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,163,890 - 153,164,139UniSTSGRCh37
Build 36X152,817,084 - 152,817,333RGDNCBI36
CeleraX153,397,570 - 153,397,819RGD
Cytogenetic MapXq28UniSTS
HuRefX141,820,316 - 141,820,565UniSTS
REN88077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,164,122 - 153,164,374UniSTSGRCh37
Build 36X152,817,316 - 152,817,568RGDNCBI36
CeleraX153,397,802 - 153,398,054RGD
HuRefX141,820,548 - 141,820,800UniSTS
REN88078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,164,272 - 153,164,496UniSTSGRCh37
Build 36X152,817,466 - 152,817,690RGDNCBI36
CeleraX153,397,952 - 153,398,176RGD
Cytogenetic MapXq28UniSTS
HuRefX141,820,698 - 141,820,922UniSTS
REN88083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,166,092 - 153,166,342UniSTSGRCh37
Build 36X152,819,286 - 152,819,536RGDNCBI36
CeleraX153,399,772 - 153,400,022RGD
Cytogenetic MapXq28UniSTS
REN88085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,166,482 - 153,166,751UniSTSGRCh37
Build 36X152,819,676 - 152,819,945RGDNCBI36
CeleraX153,400,162 - 153,400,431RGD
Cytogenetic MapXq28UniSTS
REN88086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,166,734 - 153,167,003UniSTSGRCh37
GRCh37X153,166,734 - 153,166,956UniSTSGRCh37
Build 36X152,819,928 - 152,820,150RGDNCBI36
CeleraX153,400,414 - 153,400,636RGD
CeleraX153,400,414 - 153,400,683UniSTS
Cytogenetic MapXq28UniSTS
REN88087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,166,982 - 153,167,225UniSTSGRCh37
GRCh37X153,166,936 - 153,167,225UniSTSGRCh37
Build 36X152,820,130 - 152,820,419RGDNCBI36
CeleraX153,400,616 - 153,400,905RGD
CeleraX153,400,662 - 153,400,905UniSTS
Cytogenetic MapXq28UniSTS
REN88088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,207 - 153,167,441UniSTSGRCh37
Build 36X152,820,401 - 152,820,635RGDNCBI36
CeleraX153,400,887 - 153,401,121RGD
Cytogenetic MapXq28UniSTS
HuRefX141,825,371 - 141,825,605UniSTS
REN88089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,418 - 153,167,682UniSTSGRCh37
Build 36X152,820,612 - 152,820,876RGDNCBI36
CeleraX153,401,098 - 153,401,362RGD
Cytogenetic MapXq28UniSTS
HuRefX141,825,582 - 141,825,846UniSTS
REN88090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,659 - 153,167,905UniSTSGRCh37
Build 36X152,820,853 - 152,821,099RGDNCBI36
CeleraX153,401,339 - 153,401,585RGD
Cytogenetic MapXq28UniSTS
HuRefX141,825,823 - 141,826,069UniSTS
REN88091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,885 - 153,168,128UniSTSGRCh37
Build 36X152,821,079 - 152,821,322RGDNCBI36
CeleraX153,401,565 - 153,401,808RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,049 - 141,826,292UniSTS
REN88092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,114 - 153,168,362UniSTSGRCh37
Build 36X152,821,308 - 152,821,556RGDNCBI36
CeleraX153,401,794 - 153,402,042RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,278 - 141,826,526UniSTS
REN88093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,314 - 153,168,573UniSTSGRCh37
Build 36X152,821,508 - 152,821,767RGDNCBI36
CeleraX153,401,994 - 153,402,253RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,478 - 141,826,737UniSTS
REN88094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,552 - 153,168,811UniSTSGRCh37
Build 36X152,821,746 - 152,822,005RGDNCBI36
CeleraX153,402,232 - 153,402,491RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,716 - 141,826,975UniSTS
REN88095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,801 - 153,169,048UniSTSGRCh37
Build 36X152,821,995 - 152,822,242RGDNCBI36
CeleraX153,402,481 - 153,402,761RGD
Cytogenetic MapXq28UniSTS
REN88096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,169,041 - 153,169,265UniSTSGRCh37
Build 36X152,822,235 - 152,822,459RGDNCBI36
CeleraX153,402,754 - 153,402,978RGD
Cytogenetic MapXq28UniSTS
REN88097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,169,238 - 153,169,491UniSTSGRCh37
Build 36X152,822,432 - 152,822,685RGDNCBI36
CeleraX153,402,951 - 153,403,204RGD
Cytogenetic MapXq28UniSTS
REN88098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,169,466 - 153,169,724UniSTSGRCh37
Build 36X152,822,660 - 152,822,918RGDNCBI36
CeleraX153,403,179 - 153,403,437RGD
Cytogenetic MapXq28UniSTS
REN88099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,169,704 - 153,169,936UniSTSGRCh37
Build 36X152,822,898 - 152,823,130RGDNCBI36
CeleraX153,403,417 - 153,403,649RGD
Cytogenetic MapXq28UniSTS
HuRefX141,821,103 - 141,821,335UniSTS
REN88100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,169,912 - 153,170,179UniSTSGRCh37
Build 36X152,823,106 - 152,823,373RGDNCBI36
CeleraX153,403,625 - 153,403,892RGD
Cytogenetic MapXq28UniSTS
HuRefX141,821,311 - 141,821,578UniSTS
REN88101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,175 - 153,170,418UniSTSGRCh37
Build 36X152,823,369 - 152,823,612RGDNCBI36
CeleraX153,403,888 - 153,404,131RGD
Cytogenetic MapXq28UniSTS
HuRefX141,821,574 - 141,821,817UniSTS
REN88102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,412 - 153,170,677UniSTSGRCh37
Build 36X152,823,606 - 152,823,871RGDNCBI36
CeleraX153,404,125 - 153,404,390RGD
Cytogenetic MapXq28UniSTS
HuRefX141,821,811 - 141,822,077UniSTS
REN88103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,656 - 153,170,897UniSTSGRCh37
Build 36X152,823,850 - 152,824,091RGDNCBI36
CeleraX153,404,369 - 153,404,610RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,056 - 141,822,297UniSTS
REN88104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,891 - 153,171,116UniSTSGRCh37
Build 36X152,824,085 - 152,824,310RGDNCBI36
CeleraX153,404,604 - 153,404,829RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,291 - 141,822,516UniSTS
REN88105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,171,090 - 153,171,352UniSTSGRCh37
Build 36X152,824,284 - 152,824,546RGDNCBI36
CeleraX153,404,803 - 153,405,065RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,490 - 141,822,752UniSTS
REN88106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,171,331 - 153,171,592UniSTSGRCh37
Build 36X152,824,525 - 152,824,786RGDNCBI36
CeleraX153,405,044 - 153,405,305RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,731 - 141,822,992UniSTS
REN88107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,171,567 - 153,171,805UniSTSGRCh37
Build 36X152,824,761 - 152,824,999RGDNCBI36
CeleraX153,405,280 - 153,405,518RGD
Cytogenetic MapXq28UniSTS
HuRefX141,822,967 - 141,823,205UniSTS
REN88108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,171,791 - 153,172,056UniSTSGRCh37
Build 36X152,824,985 - 152,825,250RGDNCBI36
CeleraX153,405,504 - 153,405,769RGD
Cytogenetic MapXq28UniSTS
HuRefX141,823,191 - 141,823,456UniSTS
REN88109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,035 - 153,172,294UniSTSGRCh37
Build 36X152,825,229 - 152,825,488RGDNCBI36
CeleraX153,405,748 - 153,406,007RGD
Cytogenetic MapXq28UniSTS
HuRefX141,823,435 - 141,823,694UniSTS
REN88110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,275 - 153,172,534UniSTSGRCh37
Build 36X152,825,469 - 152,825,728RGDNCBI36
CeleraX153,405,988 - 153,406,247RGD
Cytogenetic MapXq28UniSTS
HuRefX141,823,675 - 141,823,934UniSTS
REN88111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,512 - 153,172,764UniSTSGRCh37
Build 36X152,825,706 - 152,825,958RGDNCBI36
CeleraX153,406,225 - 153,406,477RGD
Cytogenetic MapXq28UniSTS
HuRefX141,823,912 - 141,824,164UniSTS
REN88112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,743 - 153,172,976UniSTSGRCh37
Build 36X152,825,937 - 152,826,170RGDNCBI36
CeleraX153,406,456 - 153,406,689RGD
Cytogenetic MapXq28UniSTS
HuRefX141,824,143 - 141,824,376UniSTS
stSG603678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,169,465 - 153,170,678UniSTSGRCh37
Build 36X152,822,659 - 152,823,872RGDNCBI36
CeleraX153,403,178 - 153,404,391RGD
stSG603679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,170,659 - 153,172,146UniSTSGRCh37
Build 36X152,823,853 - 152,825,340RGDNCBI36
CeleraX153,404,372 - 153,405,859RGD
HuRefX141,822,059 - 141,823,546UniSTS
DXS8147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,842 - 153,172,964UniSTSGRCh37
Build 36X152,826,036 - 152,826,158RGDNCBI36
CeleraX153,406,555 - 153,406,677RGD
Cytogenetic MapXq28UniSTS
HuRefX141,824,242 - 141,824,364UniSTS
RH70970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,117 - 153,172,284UniSTSGRCh37
Build 36X152,825,311 - 152,825,478RGDNCBI36
CeleraX153,405,830 - 153,405,997RGD
Cytogenetic MapXq28UniSTS
HuRefX141,823,517 - 141,823,684UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2944
Count of miRNA genes:880
Interacting mature miRNAs:1012
Transcripts:ENST00000337474, ENST00000358927, ENST00000370049, ENST00000430697, ENST00000434679
Prediction methods:Microtar, Miranda, Pita, 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 adipose tissue appendage entire extraembryonic component
High
Medium 40 20 14 34 514 34 40 32 67 24 712 52
Low 2202 2098 836 188 859 30 3419 2071 1160 268 1048 1288 159 492 2557 1
Below cutoff 133 854 736 312 912 311 379 70 2282 88 299 225 8 179 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF030626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF032388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF101727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF101728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY242131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG830436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI820082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ411207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L22206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U04357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337474   ⟹   ENSP00000338072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,905,075 - 153,907,163 (+)Ensembl
RefSeq Acc Id: ENST00000370049   ⟹   ENSP00000359066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,905,114 - 153,906,781 (+)Ensembl
RefSeq Acc Id: ENST00000430697   ⟹   ENSP00000393513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,905,001 - 153,906,816 (+)Ensembl
RefSeq Acc Id: ENST00000434679   ⟹   ENSP00000393397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,902,531 - 153,907,166 (+)Ensembl
RefSeq Acc Id: ENST00000646375   ⟹   ENSP00000496396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,904,714 - 153,907,166 (+)Ensembl
RefSeq Acc Id: NM_000054   ⟹   NP_000045
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,904,714 - 153,907,166 (+)NCBI
GRCh38X153,904,673 - 153,907,166 (+)NCBI
GRCh37X153,167,985 - 153,172,620 (+)ENTREZGENE
Build 36X152,823,564 - 152,825,834 (+)NCBI Archive
HuRefX141,789,000 - 141,824,020 (+)ENTREZGENE
CHM1_1X153,044,977 - 153,047,068 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146151   ⟹   NP_001139623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,904,714 - 153,907,166 (+)NCBI
GRCh37X153,167,985 - 153,172,620 (+)ENTREZGENE
HuRefX141,789,000 - 141,824,020 (+)ENTREZGENE
CHM1_1X153,044,977 - 153,047,068 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027419
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,902,625 - 153,907,166 (+)NCBI
GRCh37X153,167,985 - 153,172,620 (+)ENTREZGENE
HuRefX141,789,000 - 141,824,020 (+)ENTREZGENE
CHM1_1X153,042,396 - 153,047,068 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001139623   ⟸   NM_001146151
- Peptide Label: isoform 2
- UniProtKB: P30518 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000045   ⟸   NM_000054
- Peptide Label: isoform 1
- UniProtKB: P30518 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359066   ⟸   ENST00000370049
RefSeq Acc Id: ENSP00000338072   ⟸   ENST00000337474
RefSeq Acc Id: ENSP00000393513   ⟸   ENST00000430697
RefSeq Acc Id: ENSP00000393397   ⟸   ENST00000434679
RefSeq Acc Id: ENSP00000496396   ⟸   ENST00000646375
Protein Domains
G_PROTEIN_RECEP_F1_2

Promoters
RGD ID:6808522
Promoter ID:HG_KWN:68578
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid,   NB4
Transcripts:UC004FJG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,820,256 - 152,821,322 (+)MPROMDB
RGD ID:6808525
Promoter ID:HG_KWN:68579
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337474,   ENST00000358927,   OTTHUMT00000320545,   UC004FJI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,822,446 - 152,823,867 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000054.6(AVPR2):c.359_426dup (p.Arg143delinsTrpTrpAlaCysMetProProProThrTer) duplication not provided [RCV000522838] ChrX:153905864..153905865 [GRCh38]
ChrX:153171318..153171319 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.176T>C (p.Leu59Pro) single nucleotide variant Nephrogenic diabetes insipidus [RCV000029386] ChrX:153905682 [GRCh38]
ChrX:153171136 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.290T>C (p.Leu97Pro) single nucleotide variant Nephrogenic diabetes insipidus [RCV000029387] ChrX:153905796 [GRCh38]
ChrX:153171250 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.409C>G (p.Arg137Gly) single nucleotide variant Nephrogenic diabetes insipidus [RCV000029389] ChrX:153905915 [GRCh38]
ChrX:153171369 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.424del (p.Cys142fs) deletion Nephrogenic diabetes insipidus [RCV000029390] ChrX:153905930 [GRCh38]
ChrX:153171384 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.472del (p.Arg158fs) deletion Nephrogenic diabetes insipidus [RCV000029391] ChrX:153905977 [GRCh38]
ChrX:153171431 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.554del (p.Gly185fs) deletion Nephrogenic diabetes insipidus [RCV000029392]|not provided [RCV000518795] ChrX:153906059 [GRCh38]
ChrX:153171513 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000054.6(AVPR2):c.673C>T (p.Gln225Ter) single nucleotide variant Nephrogenic diabetes insipidus [RCV000029394] ChrX:153906179 [GRCh38]
ChrX:153171633 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.752_758del (p.Arg251fs) deletion Nephrogenic diabetes insipidus [RCV000029395] ChrX:153906254..153906260 [GRCh38]
ChrX:153171708..153171714 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.770del (p.Gly257fs) deletion Nephrogenic diabetes insipidus [RCV000029396]|not provided [RCV001288809] ChrX:153906275 [GRCh38]
ChrX:153171729 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.819_821del (p.Leu274del) deletion Nephrogenic diabetes insipidus [RCV000029397] ChrX:153906325..153906327 [GRCh38]
ChrX:153171779..153171781 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.838dup (p.Tyr280fs) duplication Nephrogenic diabetes insipidus [RCV000029398] ChrX:153906343..153906344 [GRCh38]
ChrX:153171797..153171798 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.853G>C (p.Ala285Pro) single nucleotide variant Nephrogenic diabetes insipidus [RCV000029399] ChrX:153906359 [GRCh38]
ChrX:153171813 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.963C>A (p.Asn321Lys) single nucleotide variant Nephrogenic diabetes insipidus [RCV000029400] ChrX:153906575 [GRCh38]
ChrX:153172029 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000054.6(AVPR2):c.738del (p.Arg247fs) deletion Nephrogenic diabetes insipidus, X-linked [RCV000011582] ChrX:153906239 [GRCh38]
ChrX:153171693 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.395C>A (p.Ala132Asp) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011583] ChrX:153905901 [GRCh38]
ChrX:153171355 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.553G>T (p.Gly185Cys) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011584] ChrX:153906059 [GRCh38]
ChrX:153171513 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys) single nucleotide variant Nephrogenic diabetes insipidus [RCV000029393]|Nephrogenic diabetes insipidus, X-linked [RCV000011585] ChrX:153906120 [GRCh38]
ChrX:153171574 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.607C>T (p.Arg203Cys) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011586] ChrX:153906113 [GRCh38]
ChrX:153171567 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.337C>T (p.Arg113Trp) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011587] ChrX:153905843 [GRCh38]
ChrX:153171297 [GRCh37]
ChrX:Xq28
pathogenic
AVPR2, 1-BP INS insertion Nephrogenic diabetes insipidus, X-linked [RCV000011588] ChrX:Xq28 pathogenic
NM_000054.6(AVPR2):c.213G>A (p.Trp71Ter) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011589] ChrX:153905719 [GRCh38]
ChrX:153171173 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.839A>G (p.Tyr280Cys) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011590] ChrX:153906345 [GRCh38]
ChrX:153171799 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.1009C>T (p.Arg337Ter) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011591]|not provided [RCV000264512] ChrX:153906621 [GRCh38]
ChrX:153172075 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.253G>A (p.Asp85Asn) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011592] ChrX:153905759 [GRCh38]
ChrX:153171213 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.602G>A (p.Gly201Asp) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011593] ChrX:153906108 [GRCh38]
ChrX:153171562 [GRCh37]
ChrX:Xq28
pathogenic
AVPR2, 1-BP INS, 804G insertion Nephrogenic diabetes insipidus, X-linked [RCV000011594] ChrX:Xq28 pathogenic
NM_000054.6(AVPR2):c.102del (p.Leu35fs) deletion Nephrogenic diabetes insipidus, X-linked [RCV000011595] ChrX:153905608 [GRCh38]
ChrX:153171062 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.410G>A (p.Arg137His) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011596] ChrX:153905916 [GRCh38]
ChrX:153171370 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.541C>T (p.Arg181Cys) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011597] ChrX:153906047 [GRCh38]
ChrX:153171501 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.313T>G (p.Phe105Val) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011598] ChrX:153905819 [GRCh38]
ChrX:153171273 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.137T>A (p.Ile46Lys) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000011599] ChrX:153905643 [GRCh38]
ChrX:153171097 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) single nucleotide variant Nephrogenic diabetes insipidus [RCV000029388]|Nephrogenic diabetes insipidus, X-linked [RCV000011600] ChrX:153905816 [GRCh38]
ChrX:153171270 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_000054.6(AVPR2):c.409C>T (p.Arg137Cys) single nucleotide variant Nephrogenic syndrome of inappropriate antidiuresis [RCV000011601]|not provided [RCV001171627] ChrX:153905915 [GRCh38]
ChrX:153171369 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.410G>T (p.Arg137Leu) single nucleotide variant Nephrogenic syndrome of inappropriate antidiuresis [RCV000011602] ChrX:153905916 [GRCh38]
ChrX:153171370 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.503T>G (p.Leu168Arg) single nucleotide variant not provided [RCV000517911] ChrX:153906009 [GRCh38]
ChrX:153171463 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168115]|not provided [RCV000514380]|not specified [RCV000517077] ChrX:153906246 [GRCh38]
ChrX:153171700 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 copy number gain See cases [RCV000135840] ChrX:153855152..154092314 [GRCh38]
ChrX:152773801..153010966 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 copy number gain See cases [RCV000137153] ChrX:153813894..154140759 [GRCh38]
ChrX:152732543..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 copy number gain See cases [RCV000140537] ChrX:153802827..154294817 [GRCh38]
ChrX:153068282..153523170 [GRCh37]
ChrX:152721476..153176364 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 copy number gain See cases [RCV000143114] ChrX:153861449..154140759 [GRCh38]
ChrX:152780098..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000054.6(AVPR2):c.388A>T (p.Ile130Phe) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000186513] ChrX:153905894 [GRCh38]
ChrX:153171348 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000054.6(AVPR2):c.886T>C (p.Trp296Arg) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000258949] ChrX:153906392 [GRCh38]
ChrX:153171846 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_000054.6(AVPR2):c.392T>C (p.Leu131Pro) single nucleotide variant not provided [RCV000224807] ChrX:153905898 [GRCh38]
ChrX:153171352 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000054.6(AVPR2):c.857C>T (p.Pro286Leu) single nucleotide variant Inborn genetic diseases [RCV000623198] ChrX:153906363 [GRCh38]
ChrX:153171817 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
NM_000054.6(AVPR2):c.927A>G (p.Leu309=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000286487]|not specified [RCV000241984] ChrX:153906539 [GRCh38]
ChrX:153171993 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.993C>T (p.Ser331=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000341583]|not provided [RCV000710722]|not specified [RCV000246975] ChrX:153906605 [GRCh38]
ChrX:153172059 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.35G>A (p.Gly12Glu) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000387768]|not specified [RCV000247065] ChrX:153905541 [GRCh38]
ChrX:153170995 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.440C>T (p.Ala147Val) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000280613]|not provided [RCV000968446]|not specified [RCV000252022] ChrX:153905946 [GRCh38]
ChrX:153171400 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000054.6(AVPR2):c.966del (p.Trp323fs) deletion Nephrogenic diabetes insipidus, X-linked [RCV000258016] ChrX:153906575 [GRCh38]
ChrX:153172029 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.26-6T>G single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000325895]|Nephrogenic diabetes insipidus, X-linked [RCV000576631]|not specified [RCV000242524] ChrX:153905526 [GRCh38]
ChrX:153170980 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_000054.6(AVPR2):c.12G>A (p.Ala4=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000365285]|not provided [RCV000910578]|not specified [RCV000250553] ChrX:153905157 [GRCh38]
ChrX:153170611 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000054.6(AVPR2):c.19A>T (p.Thr7Ser) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000270798]|not provided [RCV000972199] ChrX:153905164 [GRCh38]
ChrX:153170618 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.125C>T (p.Ala42Val) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000274580]|not provided [RCV000882981] ChrX:153905631 [GRCh38]
ChrX:153171085 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.*257G>A single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000276305] ChrX:153906985 [GRCh38]
ChrX:153172439 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.*282G>A single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000314934] ChrX:153907010 [GRCh38]
ChrX:153172464 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000054.6(AVPR2):c.754C>T (p.Arg252Trp) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000371554]|not provided [RCV000961853] ChrX:153906260 [GRCh38]
ChrX:153171714 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000054.6(AVPR2):c.189T>C (p.Ala63=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000374864]|not provided [RCV000886381] ChrX:153905695 [GRCh38]
ChrX:153171149 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000054.6(AVPR2):c.-48G>C single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000329329] ChrX:153905098 [GRCh38]
ChrX:153170552 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.6(AVPR2):c.174G>A (p.Val58=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000329639] ChrX:153905680 [GRCh38]
ChrX:153171134 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000054.6(AVPR2):c.643G>A (p.Val215Met) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000335678] ChrX:153906149 [GRCh38]
ChrX:153171603 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000054.6(AVPR2):c.1055G>A (p.Gly352Asp) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000396689]|not provided [RCV000895951] ChrX:153906667 [GRCh38]
ChrX:153172121 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.*129C>T single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000396692] ChrX:153906857 [GRCh38]
ChrX:153172311 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000054.6(AVPR2):c.*119G>A single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000347498] ChrX:153906847 [GRCh38]
ChrX:153172301 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.6(AVPR2):c.1113G>A (p.Ser371=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000301921]|not provided [RCV000882982] ChrX:153906725 [GRCh38]
ChrX:153172179 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.*204C>T single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000363870] ChrX:153906932 [GRCh38]
ChrX:153172386 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000054.6(AVPR2):c.*136T>G single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000306918] ChrX:153906864 [GRCh38]
ChrX:153172318 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.6(AVPR2):c.404T>C (p.Leu135Pro) single nucleotide variant not specified [RCV000517018] ChrX:153905910 [GRCh38]
ChrX:153171364 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.6(AVPR2):c.382_384del (p.Tyr128del) deletion Inborn genetic diseases [RCV000622455]|Nephrogenic diabetes insipidus, X-linked [RCV000990990] ChrX:153905887..153905889 [GRCh38]
ChrX:153171341..153171343 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000054.6(AVPR2):c.335G>T (p.Cys112Phe) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000414968] ChrX:153905841 [GRCh38]
ChrX:153171295 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000054.6(AVPR2):c.24del (p.Ala9fs) deletion Nephrogenic diabetes insipidus, X-linked [RCV000505581] ChrX:153905168 [GRCh38]
ChrX:153170622 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153169608-153170708)x2 copy number gain See cases [RCV000446336] ChrX:153169608..153170708 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153169608-153170664)x2 copy number gain See cases [RCV000445686] ChrX:153169608..153170664 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.445C>T (p.Arg149Cys) single nucleotide variant not provided [RCV000423240] ChrX:153905951 [GRCh38]
ChrX:153171405 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153169608-153170664)x3 copy number gain See cases [RCV000448071] ChrX:153169608..153170664 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000054.6(AVPR2):c.878G>A (p.Trp293Ter) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000487458] ChrX:153906384 [GRCh38]
ChrX:153171838 [GRCh37]
ChrX:Xq28
pathogenic
NM_001666.5(ARHGAP4):c.2608-6C>T single nucleotide variant not specified [RCV000455465] ChrX:153907968 [GRCh38]
ChrX:153173422 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.797T>C (p.Val266Ala) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000509119] ChrX:153906303 [GRCh38]
ChrX:153171757 [GRCh37]
ChrX:Xq28
not provided
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
NM_000054.6(AVPR2):c.359T>C (p.Met120Thr) single nucleotide variant not provided [RCV000494590] ChrX:153905865 [GRCh38]
ChrX:153171319 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 copy number gain not provided [RCV000684741] ChrX:153123907..153431401 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.911-2A>G single nucleotide variant not provided [RCV000710721] ChrX:153906521 [GRCh38]
ChrX:153171975 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128823)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] ChrX:153128823..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128118)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] ChrX:153128118..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153170600)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708104] ChrX:153170600..153409869 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.383A>C (p.Tyr128Ser) single nucleotide variant not provided [RCV000710720] ChrX:153905889 [GRCh38]
ChrX:153171343 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_000054.6(AVPR2):c.81G>T (p.Arg27Ser) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001165926] ChrX:153905587 [GRCh38]
ChrX:153171041 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.6(AVPR2):c.1017G>A (p.Leu339=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168873]|not provided [RCV000882359] ChrX:153906629 [GRCh38]
ChrX:153172083 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.663C>T (p.Ile221=) single nucleotide variant not provided [RCV000901865] ChrX:153906169 [GRCh38]
ChrX:153171623 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.106C>T (p.Leu36=) single nucleotide variant not provided [RCV000943415] ChrX:153905612 [GRCh38]
ChrX:153171066 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.252C>T (p.Ala84=) single nucleotide variant not provided [RCV000948163] ChrX:153905758 [GRCh38]
ChrX:153171212 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.203G>A (p.Arg68Gln) single nucleotide variant not provided [RCV000882812] ChrX:153905709 [GRCh38]
ChrX:153171163 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.69C>T (p.Ser23=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001165925]|not provided [RCV000905281] ChrX:153905575 [GRCh38]
ChrX:153171029 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000054.6(AVPR2):c.744_755del (p.Arg249_Arg252del) deletion Nephrogenic diabetes insipidus, X-linked [RCV000990991]|not provided [RCV000905878] ChrX:153906245..153906256 [GRCh38]
ChrX:153171699..153171710 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.180G>A (p.Ala60=) single nucleotide variant not provided [RCV000931253] ChrX:153905686 [GRCh38]
ChrX:153171140 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.542G>A (p.Arg181His) single nucleotide variant not provided [RCV000896087] ChrX:153906048 [GRCh38]
ChrX:153171502 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.474G>A (p.Arg158=) single nucleotide variant not provided [RCV000917759] ChrX:153905980 [GRCh38]
ChrX:153171434 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153137587)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] ChrX:153137587..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.84A>C (p.Pro28=) single nucleotide variant not provided [RCV000937874] ChrX:153905590 [GRCh38]
ChrX:153171044 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153128098)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] ChrX:153128098..153363142 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000054.6(AVPR2):c.*326A>C single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001167553] ChrX:153907054 [GRCh38]
ChrX:153172508 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.742C>T (p.Arg248Cys) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168116] ChrX:153906248 [GRCh38]
ChrX:153171702 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.*320G>A single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001167552] ChrX:153907048 [GRCh38]
ChrX:153172502 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.428G>A (p.Arg143His) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168111] ChrX:153905934 [GRCh38]
ChrX:153171388 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.546C>T (p.Asn182=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168113]|not provided [RCV000942289] ChrX:153906052 [GRCh38]
ChrX:153171506 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.*190A>C single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001165988] ChrX:153906918 [GRCh38]
ChrX:153172372 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.6(AVPR2):c.485T>C (p.Val162Ala) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168112] ChrX:153905991 [GRCh38]
ChrX:153171445 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.837C>G (p.Val279=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168872] ChrX:153906343 [GRCh38]
ChrX:153171797 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.6(AVPR2):c.816G>A (p.Met272Ile) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000990993] ChrX:153906322 [GRCh38]
ChrX:153171776 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 copy number gain not provided [RCV000846316] ChrX:153105400..153438105 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_000054.6(AVPR2):c.441dup (p.Tyr148fs) duplication not provided [RCV000991573] ChrX:153905946..153905947 [GRCh38]
ChrX:153171400..153171401 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_000054.6(AVPR2):c.879G>A (p.Trp293Ter) single nucleotide variant not provided [RCV001246447] ChrX:153906385 [GRCh38]
ChrX:153171839 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000054.6(AVPR2):c.784G>A (p.Val262Met) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV000990992] ChrX:153906290 [GRCh38]
ChrX:153171744 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000054.6(AVPR2):c.834C>T (p.Val278=) single nucleotide variant not provided [RCV000896496] ChrX:153906340 [GRCh38]
ChrX:153171794 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.117G>A (p.Ala39=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001167499]|not provided [RCV000910774] ChrX:153905623 [GRCh38]
ChrX:153171077 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.441G>A (p.Ala147=) single nucleotide variant not provided [RCV000898100] ChrX:153905947 [GRCh38]
ChrX:153171401 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.105G>A (p.Leu35=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001165927]|not provided [RCV000908261] ChrX:153905611 [GRCh38]
ChrX:153171065 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.190C>T (p.Arg64Trp) single nucleotide variant not provided [RCV000889333] ChrX:153905696 [GRCh38]
ChrX:153171150 [GRCh37]
ChrX:Xq28
likely benign
NM_000054.6(AVPR2):c.191_199GGCGGGGCC[1] (p.64_66RRG[1]) microsatellite Nephrogenic diabetes insipidus, X-linked [RCV000990989] ChrX:153905696..153905704 [GRCh38]
ChrX:153171150..153171158 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.769G>A (p.Gly257Ser) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168871] ChrX:153906275 [GRCh38]
ChrX:153171729 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000054.6(AVPR2):c.500C>T (p.Ser167Leu) single nucleotide variant not provided [RCV001036212] ChrX:153906006 [GRCh38]
ChrX:153171460 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000054.6(AVPR2):c.734G>C (p.Gly245Ala) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001168114] ChrX:153906240 [GRCh38]
ChrX:153171694 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NM_000054.6(AVPR2):c.126G>A (p.Ala42=) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001167500] ChrX:153905632 [GRCh38]
ChrX:153171086 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.311G>A (p.Arg104His) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001167501] ChrX:153905817 [GRCh38]
ChrX:153171271 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.317G>A (p.Arg106His) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001167502] ChrX:153905823 [GRCh38]
ChrX:153171277 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.416G>A (p.Arg139His) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001167503] ChrX:153905922 [GRCh38]
ChrX:153171376 [GRCh37]
ChrX:Xq28
benign
NM_000054.6(AVPR2):c.832GTC[1] (p.Val279del) microsatellite Nephrogenic diabetes insipidus, X-linked [RCV001251468] ChrX:153906338..153906340 [GRCh38]
ChrX:153171792..153171794 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_000054.6(AVPR2):c.513C>G (p.Ser171Arg) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001251483] ChrX:153906019 [GRCh38]
ChrX:153171473 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_000054.6(AVPR2):c.814A>G (p.Met272Val) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001290395] ChrX:153906320 [GRCh38]
ChrX:153171774 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.6(AVPR2):c.1010G>A (p.Arg337Gln) single nucleotide variant Nephrogenic diabetes insipidus, X-linked [RCV001260998] ChrX:153906622 [GRCh38]
ChrX:153172076 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000054.6(AVPR2):c.770dup (p.Gly257_Glu258insTer) duplication Nephrogenic diabetes insipidus, X-linked [RCV001281167] ChrX:153906274..153906275 [GRCh38]
ChrX:153171728..153171729 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.153171316A>G single nucleotide variant not provided [RCV001342384] ChrX:153905862 [GRCh38]
ChrX:153171316 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000054.4:c.807_808delTG microsatellite Nephrogenic diabetes insipidus, X-linked [RCV001293698] ChrX:153906313..153906314 [GRCh38]
ChrX:153171767..153171768 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:897 AgrOrtholog
COSMIC AVPR2 COSMIC
Ensembl Genes ENSG00000126895 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338072 UniProtKB/Swiss-Prot
  ENSP00000359066 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393397 UniProtKB/TrEMBL
  ENSP00000393513 UniProtKB/TrEMBL
  ENSP00000496396 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337474 UniProtKB/Swiss-Prot
  ENST00000370049 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000430697 UniProtKB/TrEMBL
  ENST00000434679 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000646375 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000126895 GTEx
HGNC ID HGNC:897 ENTREZGENE
Human Proteome Map AVPR2 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasoprsn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vprsn_rcpt_V2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:554 UniProtKB/Swiss-Prot
NCBI Gene 554 ENTREZGENE
OMIM 300538 OMIM
  300539 OMIM
  304800 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25189 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VASOPRESSINR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VASOPRSNV2R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JV81_HUMAN UniProtKB/TrEMBL
  F8WET1_HUMAN UniProtKB/TrEMBL
  P30518 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary C5HF20 UniProtKB/Swiss-Prot
  O43192 UniProtKB/Swiss-Prot
  Q3MJD3 UniProtKB/Swiss-Prot
  Q9UCV9 UniProtKB/Swiss-Prot