SMIM9 (small integral membrane protein 9) - Rat Genome Database

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Gene: SMIM9 (small integral membrane protein 9) Homo sapiens
Analyze
Symbol: SMIM9
Name: small integral membrane protein 9
RGD ID: 5481439
HGNC Page HGNC
Description: Predicted to localize to integral component of membrane and plasma membrane; INTERACTS WITH benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CXorf68; hypothetical protein LOC100132963; uncharacterized protein CXorf68
RGD Orthologs
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,823,348 - 154,834,662 (-)EnsemblGRCh38hg38GRCh38
GRCh38X154,823,348 - 154,834,662 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,051,623 - 154,062,937 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,704,817 - 153,717,173 (-)NCBINCBI36hg18NCBI36
CeleraX154,210,168 - 154,221,482 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,594,943 - 142,606,180 (-)NCBIHuRef
CHM1_1X153,963,317 - 153,974,647 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:11181995   PMID:11329013   PMID:15772651   PMID:16344560  


Genomics

Comparative Map Data
SMIM9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,823,348 - 154,834,662 (-)EnsemblGRCh38hg38GRCh38
GRCh38X154,823,348 - 154,834,662 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,051,623 - 154,062,937 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,704,817 - 153,717,173 (-)NCBINCBI36hg18NCBI36
CeleraX154,210,168 - 154,221,482 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,594,943 - 142,606,180 (-)NCBIHuRef
CHM1_1X153,963,317 - 153,974,647 (-)NCBICHM1_1
Smim9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X74,189,663 - 74,207,362 (-)NCBIGRCm39mm39
GRCm39 EnsemblX74,189,662 - 74,207,376 (-)Ensembl
GRCm38X75,146,057 - 75,163,756 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX75,146,056 - 75,163,770 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X72,391,396 - 72,409,090 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X71,398,777 - 71,423,241 (-)NCBImm8
CeleraX66,550,696 - 66,568,003 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
Smim9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955594803,406 - 816,735 (+)NCBIChiLan1.0ChiLan1.0
SMIM9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X154,144,752 - 154,151,903 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX154,144,752 - 154,151,903 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X144,303,611 - 144,311,226 (-)NCBIMhudiblu_PPA_v0panPan3
SMIM9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,885,491 - 122,893,466 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,878,737 - 107,890,221 (-)NCBI
ROS_Cfam_1.0X126,011,715 - 126,024,332 (-)NCBI
UMICH_Zoey_3.1X121,759,714 - 121,771,179 (-)NCBI
UNSW_CanFamBas_1.0X124,282,936 - 124,294,403 (-)NCBI
UU_Cfam_GSD_1.0X123,976,103 - 123,987,580 (-)NCBI
Smim9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,813,208 - 119,828,825 (-)NCBI
SpeTri2.0NW_004936927171,867 - 186,718 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMIM9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,255,152 - 125,327,597 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,254,737 - 125,262,113 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,221,278 - 143,228,005 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SMIM9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,077,982 - 129,086,461 (-)NCBI
ChlSab1.1 EnsemblX129,078,394 - 129,084,273 (-)Ensembl
Smim9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624963432,489 - 434,002 (+)NCBI

Position Markers
GDB:177519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,777 - 154,066,095UniSTSGRCh37
Build 36X153,718,971 - 153,719,289RGDNCBI36
CeleraX154,224,322 - 154,224,640RGD
Cytogenetic MapXq28UniSTS
HuRefX142,609,429 - 142,609,747UniSTS
ECD00294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,056,709 - 154,057,625UniSTSGRCh37
Build 36X153,709,903 - 153,710,819RGDNCBI36
CeleraX154,215,254 - 154,216,170RGD
Cytogenetic MapXq28UniSTS
HuRefX142,599,952 - 142,600,868UniSTS
ECD01166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,057,654 - 154,058,529UniSTSGRCh37
Build 36X153,710,848 - 153,711,723RGDNCBI36
CeleraX154,216,199 - 154,217,074RGD
Cytogenetic MapXq28UniSTS
HuRefX142,600,897 - 142,601,772UniSTS
ECD08011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,064,333 - 154,064,999UniSTSGRCh37
Build 36X153,717,527 - 153,718,193RGDNCBI36
CeleraX154,222,878 - 154,223,544RGD
Cytogenetic MapXq28UniSTS
HuRefX142,607,985 - 142,608,651UniSTS
ECD09058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,133 - 154,065,771UniSTSGRCh37
Build 36X153,718,327 - 153,718,965RGDNCBI36
CeleraX154,223,678 - 154,224,316RGD
Cytogenetic MapXq28UniSTS
HuRefX142,608,785 - 142,609,423UniSTS
ECD09459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,822 - 154,066,450UniSTSGRCh37
Build 36X153,719,016 - 153,719,644RGDNCBI36
CeleraX154,224,367 - 154,224,995RGD
Cytogenetic MapXq28UniSTS
HuRefX142,609,474 - 142,610,102UniSTS
ECD09850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,066,495 - 154,067,113UniSTSGRCh37
Build 36X153,719,689 - 153,720,307RGDNCBI36
CeleraX154,225,040 - 154,225,658RGD
Cytogenetic MapXq28UniSTS
HuRefX142,610,147 - 142,610,765UniSTS
ECD12919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,054,890 - 154,055,421UniSTSGRCh37
Build 36X153,708,084 - 153,708,615RGDNCBI36
CeleraX154,213,435 - 154,213,966RGD
Cytogenetic MapXq28UniSTS
HuRefX142,598,133 - 142,598,664UniSTS
ECD15817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,060,809 - 154,061,270UniSTSGRCh37
Build 36X153,714,003 - 153,714,464RGDNCBI36
CeleraX154,219,354 - 154,219,815RGD
Cytogenetic MapXq28UniSTS
HuRefX142,604,052 - 142,604,513UniSTS
ECD16196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,058,919 - 154,059,369UniSTSGRCh37
Build 36X153,712,113 - 153,712,563RGDNCBI36
CeleraX154,217,464 - 154,217,914RGD
Cytogenetic MapXq28UniSTS
HuRefX142,602,162 - 142,602,612UniSTS
ECD18456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,051,878 - 154,052,237UniSTSGRCh37
Build 36X153,705,072 - 153,705,431RGDNCBI36
CeleraX154,210,423 - 154,210,782RGD
Cytogenetic MapXq28UniSTS
HuRefX142,595,141 - 142,595,500UniSTS
ECD21408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,054,440 - 154,054,690UniSTSGRCh37
Build 36X153,707,634 - 153,707,884RGDNCBI36
CeleraX154,212,985 - 154,213,235RGD
Cytogenetic MapXq28UniSTS
HuRefX142,597,683 - 142,597,933UniSTS
ECD23646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,053,050 - 154,053,232UniSTSGRCh37
Build 36X153,706,244 - 153,706,426RGDNCBI36
CeleraX154,211,595 - 154,211,777RGD
Cytogenetic MapXq28UniSTS
HuRefX142,596,292 - 142,596,474UniSTS
ECD23907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,063,834 - 154,064,004UniSTSGRCh37
Build 36X153,717,028 - 153,717,198RGDNCBI36
CeleraX154,222,379 - 154,222,549RGD
Cytogenetic MapXq28UniSTS
HuRefX142,607,486 - 142,607,656UniSTS
ECD24398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,052,671 - 154,052,804UniSTSGRCh37
Build 36X153,705,865 - 153,705,998RGDNCBI36
CeleraX154,211,216 - 154,211,349RGD
Cytogenetic MapXq28UniSTS
HuRefX142,595,913 - 142,596,046UniSTS
REN90844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,051,430 - 154,051,677UniSTSGRCh37
Build 36X153,704,624 - 153,704,871RGDNCBI36
CeleraX154,209,975 - 154,210,222RGD
Cytogenetic MapXq28UniSTS
REN90845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,051,665 - 154,051,916UniSTSGRCh37
Build 36X153,704,859 - 153,705,110RGDNCBI36
CeleraX154,210,210 - 154,210,461RGD
Cytogenetic MapXq28UniSTS
REN90846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,051,893 - 154,052,146UniSTSGRCh37
Build 36X153,705,087 - 153,705,340RGDNCBI36
CeleraX154,210,438 - 154,210,691RGD
Cytogenetic MapXq28UniSTS
HuRefX142,595,156 - 142,595,409UniSTS
REN90847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,052,122 - 154,052,354UniSTSGRCh37
Build 36X153,705,316 - 153,705,548RGDNCBI36
CeleraX154,210,667 - 154,210,899RGD
Cytogenetic MapXq28UniSTS
HuRefX142,595,385 - 142,595,617UniSTS
REN90848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,052,665 - 154,052,890UniSTSGRCh37
Build 36X153,705,859 - 153,706,084RGDNCBI36
CeleraX154,211,210 - 154,211,435RGD
Cytogenetic MapXq28UniSTS
HuRefX142,595,907 - 142,596,132UniSTS
REN90849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,052,883 - 154,053,126UniSTSGRCh37
Build 36X153,706,077 - 153,706,320RGDNCBI36
CeleraX154,211,428 - 154,211,671RGD
Cytogenetic MapXq28UniSTS
HuRefX142,596,125 - 142,596,368UniSTS
REN90850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,053,111 - 154,053,351UniSTSGRCh37
Build 36X153,706,305 - 153,706,545RGDNCBI36
CeleraX154,211,656 - 154,211,896RGD
Cytogenetic MapXq28UniSTS
HuRefX142,596,353 - 142,596,593UniSTS
REN90851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,054,401 - 154,054,640UniSTSGRCh37
Build 36X153,707,595 - 153,707,834RGDNCBI36
CeleraX154,212,946 - 154,213,185RGD
Cytogenetic MapXq28UniSTS
HuRefX142,597,644 - 142,597,883UniSTS
REN90852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,054,618 - 154,054,842UniSTSGRCh37
Build 36X153,707,812 - 153,708,036RGDNCBI36
CeleraX154,213,163 - 154,213,387RGD
Cytogenetic MapXq28UniSTS
HuRefX142,597,861 - 142,598,085UniSTS
REN90853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,054,819 - 154,055,059UniSTSGRCh37
Build 36X153,708,013 - 153,708,253RGDNCBI36
CeleraX154,213,364 - 154,213,604RGD
Cytogenetic MapXq28UniSTS
HuRefX142,598,062 - 142,598,302UniSTS
REN90854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,055,051 - 154,055,288UniSTSGRCh37
Build 36X153,708,245 - 153,708,482RGDNCBI36
CeleraX154,213,596 - 154,213,833RGD
Cytogenetic MapXq28UniSTS
HuRefX142,598,294 - 142,598,531UniSTS
REN90855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,055,252 - 154,055,511UniSTSGRCh37
Build 36X153,708,446 - 153,708,705RGDNCBI36
CeleraX154,213,797 - 154,214,056RGD
Cytogenetic MapXq28UniSTS
HuRefX142,598,495 - 142,598,754UniSTS
REN90856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,055,509 - 154,055,752UniSTSGRCh37
Build 36X153,708,703 - 153,708,946RGDNCBI36
CeleraX154,214,054 - 154,214,297RGD
Cytogenetic MapXq28UniSTS
HuRefX142,598,752 - 142,598,995UniSTS
REN90857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,055,732 - 154,055,973UniSTSGRCh37
Build 36X153,708,926 - 153,709,167RGDNCBI36
CeleraX154,214,277 - 154,214,518RGD
Cytogenetic MapXq28UniSTS
HuRefX142,598,975 - 142,599,216UniSTS
REN90858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,055,944 - 154,056,198UniSTSGRCh37
Build 36X153,709,138 - 153,709,392RGDNCBI36
CeleraX154,214,489 - 154,214,743RGD
Cytogenetic MapXq28UniSTS
HuRefX142,599,187 - 142,599,441UniSTS
REN90859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,056,174 - 154,056,428UniSTSGRCh37
Build 36X153,709,368 - 153,709,622RGDNCBI36
CeleraX154,214,719 - 154,214,973RGD
Cytogenetic MapXq28UniSTS
HuRefX142,599,417 - 142,599,671UniSTS
REN90860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,056,420 - 154,056,670UniSTSGRCh37
Build 36X153,709,614 - 153,709,864RGDNCBI36
CeleraX154,214,965 - 154,215,215RGD
Cytogenetic MapXq28UniSTS
HuRefX142,599,663 - 142,599,913UniSTS
REN90861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,056,627 - 154,056,871UniSTSGRCh37
Build 36X153,709,821 - 153,710,065RGDNCBI36
CeleraX154,215,172 - 154,215,416RGD
Cytogenetic MapXq28UniSTS
HuRefX142,599,870 - 142,600,114UniSTS
REN90862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,056,848 - 154,057,085UniSTSGRCh37
Build 36X153,710,042 - 153,710,279RGDNCBI36
CeleraX154,215,393 - 154,215,630RGD
Cytogenetic MapXq28UniSTS
HuRefX142,600,091 - 142,600,328UniSTS
REN90863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,057,078 - 154,057,329UniSTSGRCh37
Build 36X153,710,272 - 153,710,523RGDNCBI36
CeleraX154,215,623 - 154,215,874RGD
Cytogenetic MapXq28UniSTS
HuRefX142,600,321 - 142,600,572UniSTS
REN90864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,057,306 - 154,057,567UniSTSGRCh37
Build 36X153,710,500 - 153,710,761RGDNCBI36
CeleraX154,215,851 - 154,216,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,600,549 - 142,600,810UniSTS
REN90865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,057,544 - 154,057,795UniSTSGRCh37
Build 36X153,710,738 - 153,710,989RGDNCBI36
CeleraX154,216,089 - 154,216,340RGD
Cytogenetic MapXq28UniSTS
HuRefX142,600,787 - 142,601,038UniSTS
REN90866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,057,783 - 154,058,035UniSTSGRCh37
Build 36X153,710,977 - 153,711,229RGDNCBI36
CeleraX154,216,328 - 154,216,580RGD
Cytogenetic MapXq28UniSTS
HuRefX142,601,026 - 142,601,278UniSTS
REN90867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,058,012 - 154,058,247UniSTSGRCh37
Build 36X153,711,206 - 153,711,441RGDNCBI36
CeleraX154,216,557 - 154,216,792RGD
Cytogenetic MapXq28UniSTS
HuRefX142,601,255 - 142,601,490UniSTS
REN90868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,058,219 - 154,058,456UniSTSGRCh37
Build 36X153,711,413 - 153,711,650RGDNCBI36
CeleraX154,216,764 - 154,217,001RGD
Cytogenetic MapXq28UniSTS
HuRefX142,601,462 - 142,601,699UniSTS
REN90869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,058,433 - 154,058,658UniSTSGRCh37
Build 36X153,711,627 - 153,711,852RGDNCBI36
CeleraX154,216,978 - 154,217,203RGD
Cytogenetic MapXq28UniSTS
HuRefX142,601,676 - 142,601,901UniSTS
REN90870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,058,624 - 154,058,878UniSTSGRCh37
Build 36X153,711,818 - 153,712,072RGDNCBI36
CeleraX154,217,169 - 154,217,423RGD
Cytogenetic MapXq28UniSTS
HuRefX142,601,867 - 142,602,121UniSTS
REN90871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,058,866 - 154,059,117UniSTSGRCh37
Build 36X153,712,060 - 153,712,311RGDNCBI36
CeleraX154,217,411 - 154,217,662RGD
Cytogenetic MapXq28UniSTS
HuRefX142,602,109 - 142,602,360UniSTS
REN90872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,059,105 - 154,059,354UniSTSGRCh37
Build 36X153,712,299 - 153,712,548RGDNCBI36
CeleraX154,217,650 - 154,217,899RGD
Cytogenetic MapXq28UniSTS
HuRefX142,602,348 - 142,602,597UniSTS
REN90873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,059,331 - 154,059,576UniSTSGRCh37
Build 36X153,712,525 - 153,712,770RGDNCBI36
CeleraX154,217,876 - 154,218,121RGD
Cytogenetic MapXq28UniSTS
HuRefX142,602,574 - 142,602,819UniSTS
REN90874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,059,543 - 154,059,804UniSTSGRCh37
Build 36X153,712,737 - 153,712,998RGDNCBI36
CeleraX154,218,088 - 154,218,349RGD
Cytogenetic MapXq28UniSTS
HuRefX142,602,786 - 142,603,047UniSTS
REN90875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,059,789 - 154,060,021UniSTSGRCh37
Build 36X153,712,983 - 153,713,215RGDNCBI36
CeleraX154,218,334 - 154,218,566RGD
Cytogenetic MapXq28UniSTS
HuRefX142,603,032 - 142,603,264UniSTS
REN90876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,060,018 - 154,060,242UniSTSGRCh37
Build 36X153,713,212 - 153,713,436RGDNCBI36
CeleraX154,218,563 - 154,218,787RGD
Cytogenetic MapXq28UniSTS
HuRefX142,603,261 - 142,603,485UniSTS
REN90877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,060,217 - 154,060,483UniSTSGRCh37
Build 36X153,713,411 - 153,713,677RGDNCBI36
CeleraX154,218,762 - 154,219,028RGD
Cytogenetic MapXq28UniSTS
HuRefX142,603,460 - 142,603,726UniSTS
REN90878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,060,473 - 154,060,722UniSTSGRCh37
Build 36X153,713,667 - 153,713,916RGDNCBI36
CeleraX154,219,018 - 154,219,267RGD
Cytogenetic MapXq28UniSTS
HuRefX142,603,716 - 142,603,965UniSTS
REN90879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,060,699 - 154,060,930UniSTSGRCh37
Build 36X153,713,893 - 153,714,124RGDNCBI36
CeleraX154,219,244 - 154,219,475RGD
Cytogenetic MapXq28UniSTS
HuRefX142,603,942 - 142,604,173UniSTS
REN90880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,060,898 - 154,061,123UniSTSGRCh37
Build 36X153,714,092 - 153,714,317RGDNCBI36
CeleraX154,219,443 - 154,219,668RGD
Cytogenetic MapXq28UniSTS
HuRefX142,604,141 - 142,604,366UniSTS
REN90881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,061,080 - 154,061,306UniSTSGRCh37
Build 36X153,714,274 - 153,714,500RGDNCBI36
CeleraX154,219,625 - 154,219,851RGD
Cytogenetic MapXq28UniSTS
HuRefX142,604,323 - 142,604,549UniSTS
REN90882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,061,197 - 154,061,449UniSTSGRCh37
Build 36X153,714,391 - 153,714,643RGDNCBI36
CeleraX154,219,742 - 154,219,994RGD
Cytogenetic MapXq28UniSTS
HuRefX142,604,440 - 142,604,692UniSTS
REN90883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,061,408 - 154,061,633UniSTSGRCh37
Build 36X153,714,602 - 153,714,827RGDNCBI36
CeleraX154,219,953 - 154,220,178RGD
Cytogenetic MapXq28UniSTS
HuRefX142,604,651 - 142,604,876UniSTS
REN90884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,061,551 - 154,061,818UniSTSGRCh37
Build 36X153,714,745 - 153,715,012RGDNCBI36
CeleraX154,220,096 - 154,220,363RGD
Cytogenetic MapXq28UniSTS
HuRefX142,604,794 - 142,605,061UniSTS
REN90885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,061,802 - 154,062,041UniSTSGRCh37
Build 36X153,714,996 - 153,715,235RGDNCBI36
CeleraX154,220,347 - 154,220,586RGD
Cytogenetic MapXq28UniSTS
HuRefX142,605,045 - 142,605,284UniSTS
REN90886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,062,024 - 154,062,298UniSTSGRCh37
Build 36X153,715,218 - 153,715,492RGDNCBI36
CeleraX154,220,569 - 154,220,843RGD
Cytogenetic MapXq28UniSTS
HuRefX142,605,267 - 142,605,541UniSTS
REN90887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,062,265 - 154,062,511UniSTSGRCh37
Build 36X153,715,459 - 153,715,705RGDNCBI36
CeleraX154,220,810 - 154,221,056RGD
Cytogenetic MapXq28UniSTS
HuRefX142,605,508 - 142,605,754UniSTS
REN90888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,062,499 - 154,062,747UniSTSGRCh37
Build 36X153,715,693 - 153,715,941RGDNCBI36
CeleraX154,221,044 - 154,221,292RGD
Cytogenetic MapXq28UniSTS
HuRefX142,605,742 - 142,605,990UniSTS
REN90889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,062,724 - 154,062,983UniSTSGRCh37
Build 36X153,715,918 - 153,716,177RGDNCBI36
CeleraX154,221,269 - 154,221,528RGD
Cytogenetic MapXq28UniSTS
HuRefX142,605,967 - 142,606,226UniSTS
REN90890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,062,967 - 154,063,215UniSTSGRCh37
Build 36X153,716,161 - 153,716,409RGDNCBI36
CeleraX154,221,512 - 154,221,760RGD
Cytogenetic MapXq28UniSTS
HuRefX142,606,210 - 142,606,458UniSTS
REN90891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,063,203 - 154,063,434UniSTSGRCh37
Build 36X153,716,397 - 153,716,628RGDNCBI36
CeleraX154,221,748 - 154,221,979RGD
Cytogenetic MapXq28UniSTS
REN90892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,063,404 - 154,063,675UniSTSGRCh37
Build 36X153,716,598 - 153,716,869RGDNCBI36
CeleraX154,221,949 - 154,222,220RGD
Cytogenetic MapXq28UniSTS
REN90893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,063,654 - 154,063,888UniSTSGRCh37
Build 36X153,716,848 - 153,717,082RGDNCBI36
CeleraX154,222,199 - 154,222,433RGD
Cytogenetic MapXq28UniSTS
REN90894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,063,861 - 154,064,124UniSTSGRCh37
Build 36X153,717,055 - 153,717,318RGDNCBI36
CeleraX154,222,406 - 154,222,669RGD
Cytogenetic MapXq28UniSTS
HuRefX142,607,513 - 142,607,776UniSTS
REN90895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,064,094 - 154,064,348UniSTSGRCh37
Build 36X153,717,288 - 153,717,542RGDNCBI36
CeleraX154,222,639 - 154,222,893RGD
Cytogenetic MapXq28UniSTS
HuRefX142,607,746 - 142,608,000UniSTS
REN90896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,064,347 - 154,064,571UniSTSGRCh37
Build 36X153,717,541 - 153,717,765RGDNCBI36
CeleraX154,222,892 - 154,223,116RGD
Cytogenetic MapXq28UniSTS
HuRefX142,607,999 - 142,608,223UniSTS
REN90897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,064,547 - 154,064,772UniSTSGRCh37
Build 36X153,717,741 - 153,717,966RGDNCBI36
CeleraX154,223,092 - 154,223,317RGD
Cytogenetic MapXq28UniSTS
HuRefX142,608,199 - 142,608,424UniSTS
REN90898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,064,744 - 154,065,016UniSTSGRCh37
Build 36X153,717,938 - 153,718,210RGDNCBI36
CeleraX154,223,289 - 154,223,561RGD
Cytogenetic MapXq28UniSTS
HuRefX142,608,396 - 142,608,668UniSTS
REN90899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,015 - 154,065,263UniSTSGRCh37
Build 36X153,718,209 - 153,718,457RGDNCBI36
CeleraX154,223,560 - 154,223,808RGD
Cytogenetic MapXq28UniSTS
HuRefX142,608,667 - 142,608,915UniSTS
REN90900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,252 - 154,065,490UniSTSGRCh37
Build 36X153,718,446 - 153,718,684RGDNCBI36
CeleraX154,223,797 - 154,224,035RGD
Cytogenetic MapXq28UniSTS
HuRefX142,608,904 - 142,609,142UniSTS
REN90901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,468 - 154,065,734UniSTSGRCh37
Build 36X153,718,662 - 153,718,928RGDNCBI36
CeleraX154,224,013 - 154,224,279RGD
Cytogenetic MapXq28UniSTS
HuRefX142,609,120 - 142,609,386UniSTS
REN90902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,715 - 154,065,975UniSTSGRCh37
Build 36X153,718,909 - 153,719,169RGDNCBI36
CeleraX154,224,260 - 154,224,520RGD
Cytogenetic MapXq28UniSTS
HuRefX142,609,367 - 142,609,627UniSTS
REN90903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,946 - 154,066,187UniSTSGRCh37
Build 36X153,719,140 - 153,719,381RGDNCBI36
CeleraX154,224,491 - 154,224,732RGD
Cytogenetic MapXq28UniSTS
HuRefX142,609,598 - 142,609,839UniSTS
REN90904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,066,165 - 154,066,414UniSTSGRCh37
Build 36X153,719,359 - 153,719,608RGDNCBI36
CeleraX154,224,710 - 154,224,959RGD
Cytogenetic MapXq28UniSTS
HuRefX142,609,817 - 142,610,066UniSTS
REN90905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,066,382 - 154,066,629UniSTSGRCh37
Build 36X153,719,576 - 153,719,823RGDNCBI36
CeleraX154,224,927 - 154,225,174RGD
Cytogenetic MapXq28UniSTS
HuRefX142,610,034 - 142,610,281UniSTS
REN90906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,076,806 - 59,077,036UniSTSGRCh37
GRCh37X154,973,800 - 154,974,030UniSTSGRCh37
GRCh37X154,066,606 - 154,066,857UniSTSGRCh37
Build 36X153,719,800 - 153,720,051RGDNCBI36
CeleraX154,225,151 - 154,225,402RGD
CeleraX155,127,472 - 155,127,702UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,610,258 - 142,610,509UniSTS
HuRefX143,453,911 - 143,454,141UniSTS
REN90907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,066,837 - 154,067,098UniSTSGRCh37
Build 36X153,720,031 - 153,720,292RGDNCBI36
CeleraX154,225,382 - 154,225,643RGD
Cytogenetic MapXq28UniSTS
HuRefX142,610,489 - 142,610,750UniSTS
REN90908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,067,093 - 154,067,327UniSTSGRCh37
Build 36X153,720,287 - 153,720,521RGDNCBI36
CeleraX154,225,638 - 154,225,873RGD
Cytogenetic MapXq28UniSTS
HuRefX142,610,745 - 142,610,979UniSTS
stSG604316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,051,956 - 154,053,215UniSTSGRCh37
Build 36X153,705,150 - 153,706,409RGDNCBI36
CeleraX154,210,501 - 154,211,760RGD
Cytogenetic MapXq28UniSTS
HuRefX142,595,219 - 142,596,457UniSTS
stSG604317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,053,196 - 154,054,458UniSTSGRCh37
Build 36X153,706,390 - 153,707,652RGDNCBI36
CeleraX154,211,741 - 154,213,003RGD
Cytogenetic MapXq28UniSTS
HuRefX142,596,438 - 142,597,701UniSTS
stSG604318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,054,440 - 154,055,562UniSTSGRCh37
Build 36X153,707,634 - 153,708,756RGDNCBI36
CeleraX154,212,985 - 154,214,107RGD
Cytogenetic MapXq28UniSTS
HuRefX142,597,683 - 142,598,805UniSTS
stSG604319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,055,546 - 154,057,008UniSTSGRCh37
Build 36X153,708,740 - 153,710,202RGDNCBI36
CeleraX154,214,091 - 154,215,553RGD
Cytogenetic MapXq28UniSTS
HuRefX142,598,789 - 142,600,251UniSTS
stSG604320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,056,989 - 154,058,374UniSTSGRCh37
Build 36X153,710,183 - 153,711,568RGDNCBI36
CeleraX154,215,534 - 154,216,919RGD
Cytogenetic MapXq28UniSTS
HuRefX142,600,232 - 142,601,617UniSTS
stSG604323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,060,809 - 154,062,123UniSTSGRCh37
Build 36X153,714,003 - 153,715,317RGDNCBI36
CeleraX154,219,354 - 154,220,668RGD
Cytogenetic MapXq28UniSTS
HuRefX142,604,052 - 142,605,366UniSTS
stSG604324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,062,133 - 154,063,193UniSTSGRCh37
Build 36X153,715,327 - 153,716,387RGDNCBI36
CeleraX154,220,678 - 154,221,738RGD
Cytogenetic MapXq28UniSTS
HuRefX142,605,376 - 142,606,436UniSTS
stSG604325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,063,178 - 154,064,527UniSTSGRCh37
Build 36X153,716,372 - 153,717,721RGDNCBI36
CeleraX154,221,723 - 154,223,072RGD
Cytogenetic MapXq28UniSTS
stSG604326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,064,508 - 154,065,607UniSTSGRCh37
Build 36X153,717,702 - 153,718,801RGDNCBI36
CeleraX154,223,053 - 154,224,152RGD
Cytogenetic MapXq28UniSTS
HuRefX142,608,160 - 142,609,259UniSTS
stSG604327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,065,588 - 154,066,636UniSTSGRCh37
Build 36X153,718,782 - 153,719,830RGDNCBI36
CeleraX154,224,133 - 154,225,181RGD
Cytogenetic MapXq28UniSTS
HuRefX142,609,240 - 142,610,288UniSTS
stSG604328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,066,242 - 154,067,255UniSTSGRCh37
Build 36X153,719,436 - 153,720,449RGDNCBI36
CeleraX154,224,787 - 154,225,801RGD
Cytogenetic MapXq28UniSTS
HuRefX142,609,894 - 142,610,907UniSTS
STS-M14113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,064,221 - 154,064,378UniSTSGRCh37
Build 36X153,717,415 - 153,717,572RGDNCBI36
CeleraX154,222,766 - 154,222,923RGD
Cytogenetic MapXq28UniSTS
HuRefX142,607,873 - 142,608,030UniSTS
GeneMap99-GB4 RH MapX354.15UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:290
Count of miRNA genes:222
Interacting mature miRNAs:233
Transcripts:ENST00000369529, ENST00000478043, ENST00000578244
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium
Low 2 3 1 18 1 8 2 6 326 27 11 2
Below cutoff 1217 1479 836 251 669 184 2031 1497 1004 133 530 757 67 925 1349 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000369529   ⟹   ENSP00000358542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,823,348 - 154,832,671 (-)Ensembl
RefSeq Acc Id: ENST00000478043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,830,573 - 154,834,662 (-)Ensembl
RefSeq Acc Id: ENST00000578244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,823,628 - 154,827,458 (-)Ensembl
RefSeq Acc Id: NM_001162936   ⟹   NP_001156408
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,823,348 - 154,834,662 (-)NCBI
GRCh37X154,051,623 - 154,062,937 (-)ENTREZGENE
HuRefX142,594,943 - 142,606,180 (-)ENTREZGENE
CHM1_1X153,963,317 - 153,974,647 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001156408 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NGZ8 (Get FASTA)   NCBI Sequence Viewer  
  EAW72650 (Get FASTA)   NCBI Sequence Viewer  
  EAW72651 (Get FASTA)   NCBI Sequence Viewer  
  EAW72652 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001156408   ⟸   NM_001162936
- Peptide Label: precursor
- UniProtKB: A6NGZ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000358542   ⟸   ENST00000369529


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:154791149-154931411)x2 copy number gain See cases [RCV000051070] ChrX:154791149..154931411 [GRCh38]
ChrX:153672618..153812880 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 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 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 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: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 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154791149-155996431)x3 copy number gain See cases [RCV000054323] ChrX:154791149..155996431 [GRCh38]
ChrX:153672618..154879290 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 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
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq28(chrX:154679854-156003229)x1 copy number loss See cases [RCV000136031] ChrX:154679854..156003229 [GRCh38]
ChrX:153908131..155232894 [GRCh37]
ChrX:153561325..154886088 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 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 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq28(chrX:154604412-154935279)x3 copy number gain See cases [RCV000137292] ChrX:154604412..154935279 [GRCh38]
ChrX:153485859..153816748 [NCBI36]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 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 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:154772625-154971051)x3 copy number gain See cases [RCV000143085] ChrX:154772625..154971051 [GRCh38]
ChrX:153654094..153852520 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-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 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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153928244-154065414)x3 copy number gain See cases [RCV000240020] ChrX:153928244..154065414 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:153749360-155233731)x3 copy number gain not provided [RCV000684416] ChrX:153749360..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153904473-155090513)x0 copy number loss not provided [RCV000753943] ChrX:153904473..155090513 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154038887-154758477)x3 copy number gain not provided [RCV000753944] ChrX:154038887..154758477 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154038887-154921557)x0 copy number loss not provided [RCV000753945] ChrX:154038887..154921557 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153761240-155227607) copy number loss not provided [RCV000767811] ChrX:153761240..155227607 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153941568-154290231)x2 copy number gain not provided [RCV000846317] ChrX:153941568..154290231 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely 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
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq28(chrX:154051891-155236747)x3 copy number gain See cases [RCV001194554] ChrX:154051891..155236747 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:41915 AgrOrtholog
COSMIC SMIM9 COSMIC
Ensembl Genes ENSG00000203870 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000358542 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369529 UniProtKB/Swiss-Prot
GTEx ENSG00000203870 GTEx
HGNC ID HGNC:41915 ENTREZGENE
Human Proteome Map SMIM9 Human Proteome Map
InterPro Smim9 UniProtKB/Swiss-Prot
KEGG Report hsa:100132963 UniProtKB/Swiss-Prot
NCBI Gene 100132963 ENTREZGENE
PANTHER PTHR41687 UniProtKB/Swiss-Prot
PharmGKB PA166049081 PharmGKB
UniProt A6NGZ8 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-04 SMIM9  small integral membrane protein 9  CXorf68  chromosome X open reading frame 68  Symbol and/or name change 5135510 APPROVED