OPHN1 (oligophrenin 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: OPHN1 (oligophrenin 1) Homo sapiens
Analyze
Symbol: OPHN1
Name: oligophrenin 1
RGD ID: 1345567
HGNC Page HGNC
Description: Exhibits phospholipid binding activity. Involved in several processes, including establishment of epithelial cell apical/basal polarity; neuron differentiation; and regulation of postsynaptic neurotransmitter receptor internalization. Localizes to glutamatergic synapse. Implicated in X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARHGAP41; mental retardation, X-linked 60; MRX60; oligophrenin-1; oligophrenin-1, Rho-GTPase activating protein; OPN1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ARHGAP42P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX67,949,349 - 68,433,913 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX68,042,344 - 68,433,913 (-)EnsemblGRCh38hg38GRCh38
GRCh38X68,042,344 - 68,433,841 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X67,262,186 - 67,653,337 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X67,179,440 - 67,570,372 (-)NCBINCBI36hg18NCBI36
Build 34X67,045,735 - 67,436,668NCBI
CeleraX67,613,664 - 68,004,666 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX61,092,466 - 61,481,527 (-)NCBIHuRef
CHM1_1X67,154,622 - 67,546,029 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
actin cytoskeleton  (IBA,ISO)
cytoplasm  (IBA,ISO)
cytosol  (TAS)
dendrite  (ISO)
dendritic spine  (IBA,ISO)
glutamatergic synapse  (EXP,IDA,IMP)
terminal bouton  (IBA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9195162   PMID:9582072   PMID:10439959   PMID:10818214   PMID:11161835   PMID:11595131   PMID:11998687   PMID:12477932   PMID:12777533   PMID:15026118   PMID:15342556   PMID:15772651  
PMID:16221952   PMID:17845870   PMID:18029348   PMID:18930891   PMID:18954304   PMID:19911011   PMID:20301317   PMID:20479760   PMID:21873635   PMID:22238370   PMID:22658674   PMID:22891260  
PMID:23619296   PMID:24637888   PMID:24966368   PMID:25170626   PMID:27146843   PMID:27160703   PMID:27390894   PMID:27742778   PMID:28514442   PMID:28625976   PMID:29117863   PMID:29507755  


Genomics

Comparative Map Data
OPHN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX67,949,349 - 68,433,913 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX68,042,344 - 68,433,913 (-)EnsemblGRCh38hg38GRCh38
GRCh38X68,042,344 - 68,433,841 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X67,262,186 - 67,653,337 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X67,179,440 - 67,570,372 (-)NCBINCBI36hg18NCBI36
Build 34X67,045,735 - 67,436,668NCBI
CeleraX67,613,664 - 68,004,666 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX61,092,466 - 61,481,527 (-)NCBIHuRef
CHM1_1X67,154,622 - 67,546,029 (-)NCBICHM1_1
Ophn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X97,597,886 - 97,934,691 (-)NCBIGRCm39mm39
GRCm39 EnsemblX97,597,883 - 97,934,631 (-)Ensembl
GRCm38X98,554,280 - 98,891,082 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX98,554,277 - 98,891,025 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X95,752,854 - 96,086,324 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X94,760,234 - 95,093,704 (-)NCBImm8
CeleraX85,501,536 - 85,832,824 (-)NCBICelera
Cytogenetic MapXC3NCBI
Ophn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X63,599,746 - 63,976,678 (-)NCBI
Rnor_6.0 EnsemblX68,189,161 - 68,563,137 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X68,185,865 - 68,579,518 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X69,060,378 - 69,453,851 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X86,519,900 - 86,801,421 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX64,002,740 - 64,359,348 (-)NCBICelera
Cytogenetic MapXq22NCBI
Ophn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554757,581,675 - 8,018,139 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554757,576,629 - 8,019,132 (-)NCBIChiLan1.0ChiLan1.0
OPHN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X67,354,364 - 67,740,003 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX67,359,364 - 67,739,114 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X57,288,297 - 57,674,685 (-)NCBIMhudiblu_PPA_v0panPan3
OPHN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X52,418,390 - 52,983,155 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX52,455,373 - 52,982,244 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX43,271,709 - 43,797,820 (-)NCBI
ROS_Cfam_1.0X53,420,053 - 53,943,003 (-)NCBI
UMICH_Zoey_3.1X51,391,501 - 51,917,738 (-)NCBI
UNSW_CanFamBas_1.0X52,722,901 - 53,243,080 (-)NCBI
UU_Cfam_GSD_1.0X52,643,831 - 53,170,125 (-)NCBI
Ophn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X49,111,728 - 49,477,619 (+)NCBI
SpeTri2.0NW_0049366356,966 - 243,209 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OPHN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX53,884,012 - 54,616,960 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X54,056,504 - 54,617,045 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X60,818,920 - 61,106,085 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OPHN1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X57,906,868 - 58,291,358 (-)NCBI
ChlSab1.1 EnsemblX57,911,555 - 58,290,900 (-)Ensembl
Ophn1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248911,907,233 - 2,429,714 (+)NCBI

Position Markers
WI-19211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,419 - 77,381,696UniSTSGRCh37
GRCh37X67,289,993 - 67,290,270UniSTSGRCh37
Build 36X67,206,718 - 67,206,995RGDNCBI36
CeleraX67,641,473 - 67,641,750RGD
CeleraX77,622,500 - 77,622,777UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq13.3UniSTS
HuRefX61,119,252 - 61,119,529UniSTS
HuRefX70,967,698 - 70,967,975UniSTS
GeneMap99-GB4 RH MapX246.1UniSTS
Whitehead-RH MapX211.1UniSTS
RH79992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,510 - 77,381,707UniSTSGRCh37
GRCh37X67,289,982 - 67,290,179UniSTSGRCh37
Build 36X67,206,707 - 67,206,904RGDNCBI36
CeleraX77,622,591 - 77,622,788UniSTS
CeleraX67,641,462 - 67,641,659RGD
Cytogenetic MapXq13.3UniSTS
Cytogenetic MapXq12UniSTS
HuRefX70,967,789 - 70,967,986UniSTS
HuRefX61,119,241 - 61,119,438UniSTS
RH64534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37139,470,412 - 39,470,530UniSTSGRCh37
GRCh37X67,354,311 - 67,354,426UniSTSGRCh37
Build 36X67,271,036 - 67,271,151RGDNCBI36
Celera137,750,493 - 37,750,611UniSTS
CeleraX67,705,794 - 67,705,909RGD
Cytogenetic MapXq12UniSTS
Cytogenetic Map1p34.3UniSTS
HuRef137,590,466 - 37,590,584UniSTS
HuRefX61,183,497 - 61,183,612UniSTS
DXS897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,422,674 - 67,422,816UniSTSGRCh37
Build 36X67,339,399 - 67,339,541RGDNCBI36
CeleraX67,774,150 - 67,774,292RGD
Cytogenetic MapXq12UniSTS
DXS1160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,278,031 - 67,278,181UniSTSGRCh37
Build 36X67,194,756 - 67,194,906RGDNCBI36
CeleraX67,629,511 - 67,629,661RGD
Cytogenetic MapXq12UniSTS
HuRefX61,107,519 - 61,107,669UniSTS
DXS905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,528,480 - 67,528,578UniSTSGRCh37
Build 36X67,445,205 - 67,445,303RGDNCBI36
CeleraX67,880,029 - 67,880,127RGD
Cytogenetic MapXq12UniSTS
PGK1P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,277,970 - 67,278,176UniSTSGRCh37
Build 36X67,194,695 - 67,194,901RGDNCBI36
CeleraX67,629,450 - 67,629,656RGD
Cytogenetic MapXq12UniSTS
HuRefX61,107,458 - 61,107,664UniSTS
DXS908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,462,289 - 67,462,459UniSTSGRCh37
Build 36X67,379,014 - 67,379,184RGDNCBI36
CeleraX67,813,831 - 67,814,001RGD
Cytogenetic MapXq12UniSTS
HuRefX61,291,158 - 61,291,328UniSTS
RH120295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,265,268 - 67,265,548UniSTSGRCh37
Build 36X67,181,993 - 67,182,273RGDNCBI36
CeleraX67,616,746 - 67,617,026RGD
Cytogenetic MapXq12UniSTS
HuRefX61,095,515 - 61,095,795UniSTS
G64121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,306,686 - 67,306,943UniSTSGRCh37
Build 36X67,223,411 - 67,223,668RGDNCBI36
CeleraX67,658,165 - 67,658,422RGD
Cytogenetic MapXq12UniSTS
HuRefX61,135,918 - 61,136,175UniSTS
G64120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,263,672 - 67,263,772UniSTSGRCh37
Build 36X67,180,397 - 67,180,497RGDNCBI36
CeleraX67,615,150 - 67,615,250RGD
Cytogenetic MapXq12UniSTS
HuRefX61,093,955 - 61,094,055UniSTS
G64126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,610,676 - 67,610,797UniSTSGRCh37
Build 36X67,527,401 - 67,527,522RGDNCBI36
CeleraX67,962,008 - 67,962,129RGD
Cytogenetic MapXq12UniSTS
HuRefX61,439,321 - 61,439,442UniSTS
G64127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,653,262 - 67,653,462UniSTSGRCh37
Build 36X67,569,987 - 67,570,187RGDNCBI36
CeleraX68,004,629 - 68,004,829RGD
Cytogenetic MapXq12UniSTS
HuRefX61,481,490 - 61,481,690UniSTS
G64125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,518,742 - 67,518,905UniSTSGRCh37
Build 36X67,435,467 - 67,435,630RGDNCBI36
CeleraX67,870,291 - 67,870,454RGD
Cytogenetic MapXq12UniSTS
HuRefX61,348,233 - 61,348,396UniSTS
G64123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,454,432 - 67,454,538UniSTSGRCh37
Build 36X67,371,157 - 67,371,263RGDNCBI36
CeleraX67,805,944 - 67,806,050RGD
Cytogenetic MapXq12UniSTS
HuRefX61,283,271 - 61,283,377UniSTS
G64122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,426,418 - 67,426,524UniSTSGRCh37
Build 36X67,343,143 - 67,343,249RGDNCBI36
CeleraX67,777,930 - 67,778,036RGD
Cytogenetic MapXq12UniSTS
DXS896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,372,632 - 67,372,725UniSTSGRCh37
Build 36X67,289,357 - 67,289,450RGDNCBI36
CeleraX67,724,111 - 67,724,204RGD
Cytogenetic MapXq12UniSTS
GDB:181567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,371 - 77,381,683UniSTSGRCh37
GRCh37X67,290,006 - 67,290,318UniSTSGRCh37
Build 36X67,206,731 - 67,207,043RGDNCBI36
CeleraX77,622,452 - 77,622,764UniSTS
CeleraX67,641,486 - 67,641,798RGD
Cytogenetic MapXq13.3UniSTS
Cytogenetic MapXq12UniSTS
HuRefX70,967,650 - 70,967,962UniSTS
HuRefX61,119,265 - 61,119,577UniSTS
GDB:194746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,291,540 - 67,291,728UniSTSGRCh37
Build 36X67,208,265 - 67,208,453RGDNCBI36
CeleraX67,643,020 - 67,643,208RGD
Cytogenetic MapXq12UniSTS
HuRefX61,120,799 - 61,120,987UniSTS
DXS2493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,618,716 - 67,618,977UniSTSGRCh37
Build 36X67,535,441 - 67,535,702RGDNCBI36
Cytogenetic MapXq12UniSTS
HuRefX61,447,458 - 61,447,727UniSTS
A004A36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37139,469,865 - 39,470,006UniSTSGRCh37
GRCh37X67,353,422 - 67,353,564UniSTSGRCh37
Build 36X67,270,147 - 67,270,289RGDNCBI36
CeleraX67,704,905 - 67,705,047RGD
Celera137,749,946 - 37,750,087UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic MapXq12UniSTS
HuRef137,589,919 - 37,590,060UniSTS
HuRefX61,182,608 - 61,182,750UniSTS
GeneMap99-GB4 RH Map1118.68UniSTS
WI-12732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,611,208 - 67,611,333UniSTSGRCh37
Build 36X67,527,933 - 67,528,058RGDNCBI36
CeleraX67,962,540 - 67,962,665RGD
Cytogenetic MapXq12UniSTS
HuRefX61,439,853 - 61,439,978UniSTS
GeneMap99-GB4 RH MapX239.63UniSTS
Whitehead-RH MapX156.2UniSTS
RH36157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,390 - 77,381,505UniSTSGRCh37
GRCh37X67,290,184 - 67,290,299UniSTSGRCh37
Build 36X67,206,909 - 67,207,024RGDNCBI36
CeleraX67,641,664 - 67,641,779RGD
CeleraX77,622,471 - 77,622,586UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq13.3UniSTS
HuRefX61,119,443 - 61,119,558UniSTS
HuRefX70,967,669 - 70,967,784UniSTS
GeneMap99-GB4 RH MapX245.81UniSTS
NCBI RH MapX355.3UniSTS
DXS7497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,390 - 77,381,510UniSTSGRCh37
GRCh37X67,290,179 - 67,290,299UniSTSGRCh37
Build 36X67,206,904 - 67,207,024RGDNCBI36
CeleraX67,641,659 - 67,641,779RGD
CeleraX77,622,471 - 77,622,591UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq13.3UniSTS
HuRefX61,119,438 - 61,119,558UniSTS
HuRefX70,967,669 - 70,967,789UniSTS
Whitehead-YAC Contig MapX UniSTS
DYS416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,311,635 - 67,311,754UniSTSGRCh37
Build 36X67,228,360 - 67,228,479RGDNCBI36
CeleraX67,663,114 - 67,663,233RGD
Cytogenetic MapXq12UniSTS
HuRefX61,140,871 - 61,140,990UniSTS
L77752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,566,621 - 67,566,704UniSTSGRCh37
Build 36X67,483,346 - 67,483,429RGDNCBI36
CeleraX67,918,189 - 67,918,272RGD
Cytogenetic MapXq12UniSTS
HuRefX61,396,020 - 61,396,103UniSTS
RH10979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,455 - 77,381,631UniSTSGRCh37
GRCh37X67,290,058 - 67,290,234UniSTSGRCh37
Build 36X67,206,783 - 67,206,959RGDNCBI36
CeleraX67,641,538 - 67,641,714RGD
CeleraX77,622,536 - 77,622,712UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq13.3UniSTS
HuRefX61,119,317 - 61,119,493UniSTS
HuRefX70,967,734 - 70,967,910UniSTS
GeneMap99-GB4 RH MapX245.48UniSTS
NCBI RH MapX357.4UniSTS
RH67878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,917,115 - 231,917,279UniSTSGRCh37
GRCh37X67,491,763 - 67,493,446UniSTSGRCh37
Build 362231,625,359 - 231,625,523RGDNCBI36
CeleraX67,843,310 - 67,844,992UniSTS
Celera2225,692,627 - 225,692,791RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic MapXq12UniSTS
HuRef2223,759,225 - 223,759,389UniSTS
HuRefX61,321,259 - 61,322,941UniSTS
GeneMap99-GB4 RH Map2713.52UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
AL033784  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq12UniSTS
D11S2766  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map5p15.32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12q21.32UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map4q26UniSTS
D11S3017  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q26UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map5p15.32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q41UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4412
Count of miRNA genes:1407
Interacting mature miRNAs:1848
Transcripts:ENST00000355520, ENST00000467444, ENST00000484842, ENST00000486068, ENST00000491714, ENST00000540071
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 60 11 59 10 9 8 675 46 1208 42 333 243 8 54 549 4
Low 2372 2212 1376 323 720 167 3679 2113 2509 369 1115 1365 165 1 1150 2237
Below cutoff 758 287 287 853 287 2 34 7 8 3 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB102191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ248267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL672138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX022628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX022629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC059393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP357826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT308636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000355520   ⟹   ENSP00000347710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,042,344 - 68,433,495 (-)Ensembl
RefSeq Acc Id: ENST00000467444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,192,742 - 68,210,268 (-)Ensembl
RefSeq Acc Id: ENST00000484842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,063,854 - 68,112,422 (-)Ensembl
RefSeq Acc Id: ENST00000486068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,299,001 - 68,336,452 (-)Ensembl
RefSeq Acc Id: ENST00000491714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,432,931 - 68,433,913 (-)Ensembl
RefSeq Acc Id: ENST00000679394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,380,510 - 68,383,984 (-)Ensembl
RefSeq Acc Id: ENST00000679748   ⟹   ENSP00000505800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,046,275 - 68,433,495 (-)Ensembl
RefSeq Acc Id: ENST00000679822   ⟹   ENSP00000505810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,043,464 - 68,433,020 (-)Ensembl
RefSeq Acc Id: ENST00000679914
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,208,048 - 68,433,522 (-)Ensembl
RefSeq Acc Id: ENST00000680262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,430,585 - 68,433,480 (-)Ensembl
RefSeq Acc Id: ENST00000680417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,233,480 - 68,299,071 (-)Ensembl
RefSeq Acc Id: ENST00000680503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,208,115 - 68,433,840 (-)Ensembl
RefSeq Acc Id: ENST00000680592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,046,907 - 68,207,011 (-)Ensembl
RefSeq Acc Id: ENST00000680595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,382,354 - 68,433,807 (-)Ensembl
RefSeq Acc Id: ENST00000680612   ⟹   ENSP00000505365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX67,949,349 - 68,433,380 (-)Ensembl
RefSeq Acc Id: ENST00000680804   ⟹   ENSP00000505428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,411,119 - 68,433,301 (-)Ensembl
RefSeq Acc Id: ENST00000680976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,045,131 - 68,048,582 (-)Ensembl
RefSeq Acc Id: ENST00000681349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,431,906 - 68,433,295 (-)Ensembl
RefSeq Acc Id: ENST00000681408   ⟹   ENSP00000506619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,046,398 - 68,433,868 (-)Ensembl
RefSeq Acc Id: ENST00000681520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,380,493 - 68,433,211 (-)Ensembl
RefSeq Acc Id: NM_002547   ⟹   NP_002538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,042,344 - 68,433,495 (-)NCBI
GRCh37X67,262,186 - 67,653,369 (-)NCBI
Build 36X67,179,440 - 67,570,372 (-)NCBI Archive
HuRefX61,092,466 - 61,481,527 (-)ENTREZGENE
CHM1_1X67,154,622 - 67,546,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262270   ⟹   XP_005262327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,043,411 - 68,433,527 (-)NCBI
GRCh37X67,262,186 - 67,653,369 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724653   ⟹   XP_006724716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,046,907 - 68,433,527 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530961   ⟹   XP_011529263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,043,411 - 68,433,841 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029555   ⟹   XP_016885044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,079,024 - 68,433,527 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002538 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262327 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724716 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529263 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885044 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH59393 (Get FASTA)   NCBI Sequence Viewer  
  AAI40764 (Get FASTA)   NCBI Sequence Viewer  
  BAC80690 (Get FASTA)   NCBI Sequence Viewer  
  BAC80691 (Get FASTA)   NCBI Sequence Viewer  
  BAC80692 (Get FASTA)   NCBI Sequence Viewer  
  BAC80693 (Get FASTA)   NCBI Sequence Viewer  
  BAC80694 (Get FASTA)   NCBI Sequence Viewer  
  BAC80695 (Get FASTA)   NCBI Sequence Viewer  
  BAC80696 (Get FASTA)   NCBI Sequence Viewer  
  BAC80697 (Get FASTA)   NCBI Sequence Viewer  
  BAC80698 (Get FASTA)   NCBI Sequence Viewer  
  BAC80699 (Get FASTA)   NCBI Sequence Viewer  
  BAC80700 (Get FASTA)   NCBI Sequence Viewer  
  BAC80701 (Get FASTA)   NCBI Sequence Viewer  
  BAC80702 (Get FASTA)   NCBI Sequence Viewer  
  BAC80703 (Get FASTA)   NCBI Sequence Viewer  
  BAC80704 (Get FASTA)   NCBI Sequence Viewer  
  BAC80705 (Get FASTA)   NCBI Sequence Viewer  
  BAC80706 (Get FASTA)   NCBI Sequence Viewer  
  BAC80707 (Get FASTA)   NCBI Sequence Viewer  
  BAC80708 (Get FASTA)   NCBI Sequence Viewer  
  BAC80709 (Get FASTA)   NCBI Sequence Viewer  
  BAC81125 (Get FASTA)   NCBI Sequence Viewer  
  BAG58594 (Get FASTA)   NCBI Sequence Viewer  
  CAA04579 (Get FASTA)   NCBI Sequence Viewer  
  CAB96181 (Get FASTA)   NCBI Sequence Viewer  
  CAC07882 (Get FASTA)   NCBI Sequence Viewer  
  EAX05378 (Get FASTA)   NCBI Sequence Viewer  
  O60890 (Get FASTA)   NCBI Sequence Viewer  
  QTZ96718 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002538   ⟸   NM_002547
- UniProtKB: O60890 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262327   ⟸   XM_005262270
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006724716   ⟸   XM_006724653
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529263   ⟸   XM_011530961
- Peptide Label: isoform X1
- UniProtKB: O60890 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885044   ⟸   XM_017029555
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000347710   ⟸   ENST00000355520
RefSeq Acc Id: ENSP00000505800   ⟸   ENST00000679748
RefSeq Acc Id: ENSP00000505428   ⟸   ENST00000680804
RefSeq Acc Id: ENSP00000505810   ⟸   ENST00000679822
RefSeq Acc Id: ENSP00000506619   ⟸   ENST00000681408
RefSeq Acc Id: ENSP00000505365   ⟸   ENST00000680612
Protein Domains
PH   Rho-GAP

Promoters
RGD ID:6809096
Promoter ID:HG_KWN:67091
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000355520,   OTTHUMT00000057015,   UC004DWX.2,   UC010NKU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X67,569,906 - 67,570,452 (-)MPROMDB
RGD ID:13627337
Promoter ID:EPDNEW_H28945
Type:initiation region
Name:OPHN1_3
Description:oligophrenin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28946  EPDNEW_H28947  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,433,403 - 68,433,463EPDNEW
RGD ID:13627339
Promoter ID:EPDNEW_H28946
Type:initiation region
Name:OPHN1_1
Description:oligophrenin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28945  EPDNEW_H28947  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,433,841 - 68,433,901EPDNEW
RGD ID:13627341
Promoter ID:EPDNEW_H28947
Type:initiation region
Name:OPHN1_2
Description:oligophrenin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28945  EPDNEW_H28946  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,434,057 - 68,434,117EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) single nucleotide variant History of neurodevelopmental disorder [RCV000718669]|not provided [RCV000876223]|not specified [RCV000517251] ChrX:68064173 [GRCh38]
ChrX:67284015 [GRCh37]
ChrX:Xq12
benign|likely benign|conflicting interpretations of pathogenicity
NG_008960.1:g.224486-?_245539+?del deletion Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000022825] ChrX:Xq12 pathogenic
NM_002547.3(OPHN1):c.1579del (p.Ile527fs) deletion Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000012333] ChrX:68096977 [GRCh38]
ChrX:67316819 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs) duplication Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000012334] ChrX:68210232..68210233 [GRCh38]
ChrX:67430074..67430075 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000012335] ChrX:68299067 [GRCh38]
ChrX:67518909 [GRCh37]
ChrX:Xq12
pathogenic
OPHN1, 17.6-KB DEL deletion Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000012336] ChrX:Xq12 pathogenic
NM_002547.3(OPHN1):c.642_643TG[1] (p.Val215fs) microsatellite Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000012337] ChrX:68212165..68212166 [GRCh38]
ChrX:67432007..67432008 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.12C>G (p.Pro4=) single nucleotide variant not specified [RCV000516493] ChrX:68433009 [GRCh38]
ChrX:67652851 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.2(OPHN1):c.1276+32059G>A single nucleotide variant Lung cancer [RCV000102738] ChrX:68160860 [GRCh38]
ChrX:67380702 [GRCh37]
ChrX:Xq12
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 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 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 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 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 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 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: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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
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: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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
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 Xq12(chrX:67585642-68127021)x3 copy number gain See cases [RCV000054199] ChrX:67585642..68127021 [GRCh38]
ChrX:66805484..67346863 [GRCh37]
ChrX:66722209..67263588 [NCBI36]
ChrX:Xq12
uncertain significance
GRCh38/hg38 Xq12-13.1(chrX:68126762-68820618)x3 copy number gain See cases [RCV000054200] ChrX:68126762..68820618 [GRCh38]
ChrX:67346604..68040461 [GRCh37]
ChrX:67263329..67957186 [NCBI36]
ChrX:Xq12-13.1
uncertain significance
GRCh38/hg38 Xq12(chrX:68274851-68352331)x3 copy number gain See cases [RCV000054201] ChrX:68274851..68352331 [GRCh38]
ChrX:67494693..67572173 [GRCh37]
ChrX:67411418..67488898 [NCBI36]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000715499]|not provided [RCV000224669]|not specified [RCV000146988] ChrX:68432888 [GRCh38]
ChrX:67652730 [GRCh37]
ChrX:Xq12
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) single nucleotide variant History of neurodevelopmental disorder [RCV000721018]|not provided [RCV000080019]|not specified [RCV000146990] ChrX:68063983 [GRCh38]
ChrX:67283825 [GRCh37]
ChrX:Xq12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002547.3(OPHN1):c.250G>A (p.Ala84Thr) single nucleotide variant not provided [RCV000080020] ChrX:68299001 [GRCh38]
ChrX:67518843 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000715475]|not provided [RCV000712471]|not specified [RCV000146987] ChrX:68432906 [GRCh38]
ChrX:67652748 [GRCh37]
ChrX:Xq12
benign|likely benign|conflicting interpretations of pathogenicity
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_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000715949]|not provided [RCV000876356]|not specified [RCV000176190] ChrX:68063956 [GRCh38]
ChrX:67283798 [GRCh37]
ChrX:Xq12
benign|likely benign|conflicting interpretations of pathogenicity
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) single nucleotide variant not specified [RCV000176291] ChrX:68053662 [GRCh38]
ChrX:67273504 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.2324+10G>T single nucleotide variant not provided [RCV000838446]|not specified [RCV000176292] ChrX:68053635 [GRCh38]
ChrX:67273477 [GRCh37]
ChrX:Xq12
benign
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
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser) single nucleotide variant not provided [RCV000174733] ChrX:68193907 [GRCh38]
ChrX:67413749 [GRCh37]
ChrX:Xq12
uncertain significance
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
NM_002547.3(OPHN1):c.1749A>C (p.Ala583=) single nucleotide variant not specified [RCV000146989] ChrX:68073237 [GRCh38]
ChrX:67293079 [GRCh37]
ChrX:Xq12
benign
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000717350]|not provided [RCV000514598]|not specified [RCV000146991] ChrX:68063933 [GRCh38]
ChrX:67283775 [GRCh37]
ChrX:Xq12
benign|likely benign
NM_002547.3(OPHN1):c.2159-4C>T single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000146992] ChrX:68053814 [GRCh38]
ChrX:67273656 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000146993] ChrX:68213963 [GRCh38]
ChrX:67433805 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.702+11A>C single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000146994]|not specified [RCV000602691] ChrX:68212097 [GRCh38]
ChrX:67431939 [GRCh37]
ChrX:Xq12
likely benign|uncertain significance
NM_002547.3(OPHN1):c.702+29G>A single nucleotide variant not specified [RCV000146995] ChrX:68212079 [GRCh38]
ChrX:67431921 [GRCh37]
ChrX:Xq12
benign|likely benign|conflicting interpretations of pathogenicity
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) single nucleotide variant History of neurodevelopmental disorder [RCV000716916]|Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000605251]|not provided [RCV000418701]|not specified [RCV000146996] ChrX:68206604 [GRCh38]
ChrX:67426446 [GRCh37]
ChrX:Xq12
benign|likely benign
NM_002547.3(OPHN1):c.903G>C (p.Thr301=) single nucleotide variant not specified [RCV000146997] ChrX:68206603 [GRCh38]
ChrX:67426445 [GRCh37]
ChrX:Xq12
benign
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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 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
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 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 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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
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 Xq12(chrX:68060610-68353960)x2 copy number gain See cases [RCV000135880] ChrX:68060610..68353960 [GRCh38]
ChrX:67280452..67573802 [GRCh37]
ChrX:67197177..67490527 [NCBI36]
ChrX:Xq12
pathogenic
GRCh38/hg38 Xq12(chrX:67956726-68353960)x3 copy number gain See cases [RCV000137027] ChrX:67956726..68353960 [GRCh38]
ChrX:67176568..67573802 [GRCh37]
ChrX:67093293..67490527 [NCBI36]
ChrX:Xq12
benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
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 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
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 Xq12(chrX:67532311-68353901)x1 copy number loss See cases [RCV000140460] ChrX:67532311..68353901 [GRCh38]
ChrX:66752153..67573743 [GRCh37]
ChrX:66668878..67490468 [NCBI36]
ChrX:Xq12
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 Xq12-13.1(chrX:68277324-68861722)x1 copy number loss See cases [RCV000141866] ChrX:68277324..68861722 [GRCh38]
ChrX:67497166..68081565 [GRCh37]
ChrX:67413891..67998290 [NCBI36]
ChrX:Xq12-13.1
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
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 Xq12(chrX:67676484-68288063)x4 copy number gain See cases [RCV000143361] ChrX:67676484..68288063 [GRCh38]
ChrX:66896326..67507905 [GRCh37]
ChrX:66813051..67424630 [NCBI36]
ChrX:Xq12
uncertain significance
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 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
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
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
NM_002547.3(OPHN1):c.413G>T (p.Gly138Val) single nucleotide variant not provided [RCV000153625] ChrX:68234560 [GRCh38]
ChrX:67454402 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.360G>A (p.Arg120=) single nucleotide variant not provided [RCV000153626] ChrX:68274762 [GRCh38]
ChrX:67494604 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.1903C>A (p.His635Asn) single nucleotide variant not provided [RCV000176191] ChrX:68064109 [GRCh38]
ChrX:67283951 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.702+8T>C single nucleotide variant not provided [RCV000726983]|not specified [RCV000192937] ChrX:68212100 [GRCh38]
ChrX:67431942 [GRCh37]
ChrX:Xq12
conflicting interpretations of pathogenicity|uncertain significance
NM_002547.3(OPHN1):c.1830C>T (p.Ser610=) single nucleotide variant not provided [RCV000955118]|not specified [RCV000192989] ChrX:68073156 [GRCh38]
ChrX:67292998 [GRCh37]
ChrX:Xq12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000766101]|not specified [RCV000193924] ChrX:68096943 [GRCh38]
ChrX:67316785 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.1722G>A (p.Pro574=) single nucleotide variant not specified [RCV000194766] ChrX:68073264 [GRCh38]
ChrX:67293106 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.333G>A (p.Leu111=) single nucleotide variant not specified [RCV000195060] ChrX:68274789 [GRCh38]
ChrX:67494631 [GRCh37]
ChrX:Xq12
likely benign
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_002547.3(OPHN1):c.1126A>G (p.Lys376Glu) single nucleotide variant not specified [RCV000192685] ChrX:68194477 [GRCh38]
ChrX:67414319 [GRCh37]
ChrX:Xq12
uncertain significance
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_002547.3(OPHN1):c.2363G>A (p.Arg788Gln) single nucleotide variant Inborn genetic diseases [RCV000210665] ChrX:68052552 [GRCh38]
ChrX:67272394 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000209895] ChrX:68063977 [GRCh38]
ChrX:67283819 [GRCh37]
ChrX:Xq12
likely pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xq12(chrX:66905875-67475065)x3 copy number gain Premature ovarian failure [RCV000225139] ChrX:66905875..67475065 [GRCh37]
ChrX:Xq12
uncertain significance
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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xq12-13.1(chrX:64927267-69276852)x3 copy number gain See cases [RCV000239973] ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:67501664-67882530)x4 copy number gain See cases [RCV000511316] ChrX:67501664..67882530 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
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 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_002547.3(OPHN1):c.1277-1G>C single nucleotide variant not provided [RCV000487544] ChrX:68119333 [GRCh38]
ChrX:67339175 [GRCh37]
ChrX:Xq12
likely 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_002547.3(OPHN1):c.1547A>G (p.Glu516Gly) single nucleotide variant not provided [RCV000338623] ChrX:68097009 [GRCh38]
ChrX:67316851 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.772del (p.Gln258fs) deletion not provided [RCV000353697] ChrX:68210213 [GRCh38]
ChrX:67430055 [GRCh37]
ChrX:Xq12
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_002547.3(OPHN1):c.503A>G (p.Asp168Gly) single nucleotide variant not provided [RCV000591808] ChrX:68213956 [GRCh38]
ChrX:67433798 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.5dup (p.His3fs) duplication not provided [RCV000598841] ChrX:68433015..68433016 [GRCh38]
ChrX:67652857..67652858 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.2075C>A (p.Pro692His) single nucleotide variant not provided [RCV000598538] ChrX:68063937 [GRCh38]
ChrX:67283779 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) single nucleotide variant not provided [RCV001311397]|not specified [RCV000592895] ChrX:68201636 [GRCh38]
ChrX:67421478 [GRCh37]
ChrX:Xq12
benign|likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_002547.3(OPHN1):c.961del (p.Cys321fs) deletion not provided [RCV000599491] ChrX:68201683 [GRCh38]
ChrX:67421525 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.1060G>A (p.Ala354Thr) single nucleotide variant not provided [RCV000731095] ChrX:68197230 [GRCh38]
ChrX:67417072 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.494T>A (p.Leu165Gln) single nucleotide variant not provided [RCV000595524] ChrX:68213965 [GRCh38]
ChrX:67433807 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) single nucleotide variant Congenital cerebellar hypoplasia [RCV000415241] ChrX:68210239 [GRCh38]
ChrX:67430081 [GRCh37]
ChrX:Xq12
likely 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: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 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:67570138-68576809)x3 copy number gain See cases [RCV000446503] ChrX:67570138..68576809 [GRCh37]
ChrX:Xq12-13.1
likely pathogenic
GRCh37/hg19 Xq12(chrX:67497166-67594258)x0 copy number loss See cases [RCV000447503] ChrX:67497166..67594258 [GRCh37]
ChrX:Xq12
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
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) single nucleotide variant History of neurodevelopmental disorder [RCV000717096]|not provided [RCV000951869]|not specified [RCV000438005] ChrX:68052553 [GRCh38]
ChrX:67272395 [GRCh37]
ChrX:Xq12
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002547.3(OPHN1):c.312+13C>T single nucleotide variant not specified [RCV000421934] ChrX:68283043 [GRCh38]
ChrX:67502885 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.1512A>C (p.Ile504=) single nucleotide variant not specified [RCV000439977] ChrX:68111868 [GRCh38]
ChrX:67331710 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.1246C>T (p.Gln416Ter) single nucleotide variant not provided [RCV000429803] ChrX:68192949 [GRCh38]
ChrX:67412791 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.1747G>A (p.Ala583Thr) single nucleotide variant not provided [RCV000420052] ChrX:68073239 [GRCh38]
ChrX:67293081 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.832+16G>A single nucleotide variant not specified [RCV000436950] ChrX:68210137 [GRCh38]
ChrX:67429979 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.1814C>T (p.Ser605Phe) single nucleotide variant not provided [RCV000435383] ChrX:68073172 [GRCh38]
ChrX:67293014 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
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 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
NM_002547.3(OPHN1):c.155-2A>C single nucleotide variant not provided [RCV000481065] ChrX:68299098 [GRCh38]
ChrX:67518940 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys) single nucleotide variant not provided [RCV000481229] ChrX:68192970 [GRCh38]
ChrX:67412812 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002547.3(OPHN1):c.1946G>A (p.Gly649Glu) single nucleotide variant not specified [RCV000500931] ChrX:68064066 [GRCh38]
ChrX:67283908 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002547.3(OPHN1):c.249C>T (p.Ile83=) single nucleotide variant not specified [RCV000499782] ChrX:68299002 [GRCh38]
ChrX:67518844 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xq12(chrX:66999764-67419971)x2 copy number gain See cases [RCV000510677] ChrX:66999764..67419971 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_002547.3(OPHN1):c.1081G>C (p.Glu361Gln) single nucleotide variant not specified [RCV000502703] ChrX:68197209 [GRCh38]
ChrX:67417051 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000502895] ChrX:68053801 [GRCh38]
ChrX:67273643 [GRCh37]
ChrX:Xq12
likely pathogenic|uncertain significance
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000500752] ChrX:68299036 [GRCh38]
ChrX:67518878 [GRCh37]
ChrX:Xq12
likely pathogenic|uncertain significance
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 Xq12(chrX:67404055-67716255)x2 copy number gain See cases [RCV000511654] ChrX:67404055..67716255 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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
GRCh37/hg19 Xq12(chrX:66911026-67265082)x3 copy number gain See cases [RCV000510847] ChrX:66911026..67265082 [GRCh37]
ChrX:Xq12
benign
NM_002547.3(OPHN1):c.56G>A (p.Arg19His) single nucleotide variant Inborn genetic diseases [RCV000623043] ChrX:68432965 [GRCh38]
ChrX:67652807 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.2(OPHN1):c.2159_2171delGGGATGCTGACAG (p.Gly720Valfs) deletion not provided [RCV000627611] ChrX:68053798..68053810 [GRCh38]
ChrX:67273640..67273652 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.2303C>T (p.Ala768Val) single nucleotide variant not specified [RCV000610341] ChrX:68053666 [GRCh38]
ChrX:67273508 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.1668A>G (p.Leu556=) single nucleotide variant not specified [RCV000608655] ChrX:68096888 [GRCh38]
ChrX:67316730 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:67621075-67854751)x3 copy number gain See cases [RCV000512322] ChrX:67621075..67854751 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
NM_002547.3(OPHN1):c.1105-1G>T single nucleotide variant not provided [RCV000513407] ChrX:68194499 [GRCh38]
ChrX:67414341 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002547.3(OPHN1):c.2049G>C (p.Lys683Asn) single nucleotide variant Inborn genetic diseases [RCV000622571] ChrX:68063963 [GRCh38]
ChrX:67283805 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002547.3(OPHN1):c.1834+1G>T single nucleotide variant not provided [RCV000658335] ChrX:68073151 [GRCh38]
ChrX:67292993 [GRCh37]
ChrX:Xq12
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:67637833-68628411)x3 copy number gain not provided [RCV000684342] ChrX:67637833..68628411 [GRCh37]
ChrX:Xq12-13.1
likely pathogenic
NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly) single nucleotide variant not provided [RCV000712472] ChrX:68053799 [GRCh38]
ChrX:67273641 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.919C>T (p.Pro307Ser) single nucleotide variant not provided [RCV000712473] ChrX:68206587 [GRCh38]
ChrX:67426429 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.1362-2A>G single nucleotide variant History of neurodevelopmental disorder [RCV000717411] ChrX:68113241 [GRCh38]
ChrX:67333083 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002547.3(OPHN1):c.1443C>A (p.Arg481=) single nucleotide variant History of neurodevelopmental disorder [RCV000719408] ChrX:68111937 [GRCh38]
ChrX:67331779 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.2062G>T (p.Ala688Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719205] ChrX:68063950 [GRCh38]
ChrX:67283792 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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 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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter) single nucleotide variant not provided [RCV000760476] ChrX:68111891 [GRCh38]
ChrX:67331733 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV001031016] ChrX:68119266 [GRCh38]
ChrX:67339108 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.1800G>T (p.Thr600=) single nucleotide variant not provided [RCV000926590] ChrX:68073186 [GRCh38]
ChrX:67293028 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.48C>T (p.Pro16=) single nucleotide variant not provided [RCV000870816] ChrX:68432973 [GRCh38]
ChrX:67652815 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.165T>G (p.Ser55=) single nucleotide variant not provided [RCV000901483] ChrX:68299086 [GRCh38]
ChrX:67518928 [GRCh37]
ChrX:Xq12
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_002547.3(OPHN1):c.2076C>G (p.Pro692=) single nucleotide variant not provided [RCV000920696] ChrX:68063936 [GRCh38]
ChrX:67283778 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.1799C>T (p.Thr600Met) single nucleotide variant not provided [RCV000938545] ChrX:68073187 [GRCh38]
ChrX:67293029 [GRCh37]
ChrX:Xq12
benign
NM_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup) duplication not provided [RCV000945922] ChrX:68073240..68073241 [GRCh38]
ChrX:67293082..67293083 [GRCh37]
ChrX:Xq12
benign
NM_002547.3(OPHN1):c.237T>C (p.Asp79=) single nucleotide variant not provided [RCV000878855] ChrX:68299014 [GRCh38]
ChrX:67518856 [GRCh37]
ChrX:Xq12
benign
NM_002547.3(OPHN1):c.204G>A (p.Gln68=) single nucleotide variant not provided [RCV000922903] ChrX:68299047 [GRCh38]
ChrX:67518889 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.936G>C (p.Gly312=) single nucleotide variant not provided [RCV000883033] ChrX:68201708 [GRCh38]
ChrX:67421550 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.2376-77G>T single nucleotide variant not provided [RCV000833468] ChrX:68048534 [GRCh38]
ChrX:67268376 [GRCh37]
ChrX:Xq12
benign
NM_002547.3(OPHN1):c.598-245G>A single nucleotide variant not provided [RCV000826543] ChrX:68212457 [GRCh38]
ChrX:67432299 [GRCh37]
ChrX:Xq12
benign
NC_000023.11:g.68053635C>A single nucleotide variant not provided [RCV000838446] ChrX:67273477 [GRCh37]
ChrX:Xq12
benign
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000787965] ChrX:68119248 [GRCh38]
ChrX:67339090 [GRCh37]
ChrX:Xq12
likely pathogenic
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
NM_002547.3(OPHN1):c.702+136T>C single nucleotide variant not provided [RCV000826546] ChrX:68211972 [GRCh38]
ChrX:67431814 [GRCh37]
ChrX:Xq12
benign
NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr) single nucleotide variant not provided [RCV000821641] ChrX:68193952 [GRCh38]
ChrX:67413794 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.154+196T>C single nucleotide variant not provided [RCV000826541] ChrX:68432671 [GRCh38]
ChrX:67652513 [GRCh37]
ChrX:Xq12
benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xq12(chrX:67575280-67733282)x3 copy number gain not provided [RCV000846679] ChrX:67575280..67733282 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.999_1000del (p.Phe333fs) deletion not provided [RCV001009095] ChrX:68201644..68201645 [GRCh38]
ChrX:67421486..67421487 [GRCh37]
ChrX:Xq12
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
NM_002547.3(OPHN1):c.2249G>A (p.Arg750Gln) single nucleotide variant not provided [RCV000992461] ChrX:68053720 [GRCh38]
ChrX:67273562 [GRCh37]
ChrX:Xq12
uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002547.3(OPHN1):c.1256del (p.Lys419fs) deletion not provided [RCV000995935] ChrX:68192939 [GRCh38]
ChrX:67412781 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002547.3(OPHN1):c.1025+2T>C single nucleotide variant not provided [RCV000995936] ChrX:68201617 [GRCh38]
ChrX:67421459 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002547.3(OPHN1):c.1526+5G>T single nucleotide variant not provided [RCV001172013] ChrX:68111849 [GRCh38]
ChrX:67331691 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.2325-4G>T single nucleotide variant not provided [RCV000974669] ChrX:68052594 [GRCh38]
ChrX:67272436 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.1138+1G>A single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV000990853] ChrX:68194464 [GRCh38]
ChrX:67414306 [GRCh37]
ChrX:Xq12
pathogenic
GRCh37/hg19 Xq12(chrX:67541966-67752406)x2 copy number gain not provided [RCV001007310] ChrX:67541966..67752406 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.916A>C (p.Lys306Gln) single nucleotide variant not provided [RCV001092798] ChrX:68206590 [GRCh38]
ChrX:67426432 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.148A>G (p.Met50Val) single nucleotide variant not provided [RCV001092799] ChrX:68432873 [GRCh38]
ChrX:67652715 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.1183A>G (p.Asn395Asp) single nucleotide variant Intellectual disability [RCV001252090] ChrX:68193908 [GRCh38]
ChrX:67413750 [GRCh37]
ChrX:Xq12
likely benign
NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV001253493] ChrX:68299060 [GRCh38]
ChrX:67518902 [GRCh37]
ChrX:Xq12
uncertain significance
Single allele deletion Congenital cerebellar hypoplasia [RCV001257993] ChrX:68142437..68333040 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_002547.3(OPHN1):c.1265del (p.Asn422fs) deletion not provided [RCV001267906] ChrX:68192930 [GRCh38]
ChrX:67412772 [GRCh37]
ChrX:Xq12
pathogenic
NM_002547.3(OPHN1):c.1410_1419del (p.Ala472fs) deletion not provided [RCV001267905] ChrX:68113182..68113191 [GRCh38]
ChrX:67333024..67333033 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002547.3(OPHN1):c.1141G>T (p.Glu381Ter) single nucleotide variant Inborn genetic diseases [RCV001266605] ChrX:68193950 [GRCh38]
ChrX:67413792 [GRCh37]
ChrX:Xq12
pathogenic
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_002547.3(OPHN1):c.2316A>G (p.Thr772=) single nucleotide variant not provided [RCV001289040] ChrX:68053653 [GRCh38]
ChrX:67273495 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.2129C>T (p.Ala710Val) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV001290258] ChrX:68063883 [GRCh38]
ChrX:67283725 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del) deletion Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV001290259] ChrX:68432894..68432905 [GRCh38]
ChrX:67652736..67652747 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His) single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV001330743] ChrX:68064123 [GRCh38]
ChrX:67283965 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002547.3(OPHN1):c.1105-13_1109del deletion Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV001283801] ChrX:68194494..68194511 [GRCh38]
ChrX:67414336..67414353 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002547.3(OPHN1):c.1201+3A>G single nucleotide variant Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [RCV001330742] ChrX:68193887 [GRCh38]
ChrX:67413729 [GRCh37]
ChrX:Xq12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8148 AgrOrtholog
COSMIC OPHN1 COSMIC
Ensembl Genes ENSG00000079482 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000347710 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000505365 ENTREZGENE
  ENSP00000505800 ENTREZGENE
  ENSP00000506619 ENTREZGENE
Ensembl Transcript ENST00000355520 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000679748 ENTREZGENE
  ENST00000680612 ENTREZGENE
  ENST00000681408 ENTREZGENE
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.1270.60 UniProtKB/Swiss-Prot
  2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000079482 GTEx
HGNC ID HGNC:8148 ENTREZGENE
Human Proteome Map OPHN1 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  PH_domain UniProtKB/Swiss-Prot
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4983 UniProtKB/Swiss-Prot
NCBI Gene 4983 ENTREZGENE
OMIM 300127 OMIM
  300486 OMIM
Pfam PF00169 UniProtKB/Swiss-Prot
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31934 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot
  RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot
  SM00233 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot
  SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O60890 ENTREZGENE, UniProtKB/Swiss-Prot
  Q7Z2H1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B9EIP8 UniProtKB/Swiss-Prot
  Q5JQ81 UniProtKB/Swiss-Prot
  Q6PCC1 UniProtKB/Swiss-Prot
  Q8WX47 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-09 OPHN1  oligophrenin 1  MRX60  mental retardation, X-linked 60  Data Merged 737654 PROVISIONAL