TKTL1 (transketolase like 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TKTL1 (transketolase like 1) Homo sapiens
Analyze
Symbol: TKTL1
Name: transketolase like 1
RGD ID: 1351621
HGNC Page HGNC
Description: Predicted to have thiamine pyrophosphate binding activity and transketolase activity. Predicted to be involved in glucose catabolic process and thiamine metabolic process. Localizes to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: TK 2; TKR; TKT2; transketolase 2; transketolase-2; transketolase-like 1; transketolase-like protein 1; transketolase-related protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,295,795 - 154,330,350 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,295,795 - 154,330,350 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,524,148 - 153,558,700 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,177,345 - 153,211,894 (+)NCBINCBI36hg18NCBI36
Build 34X153,044,997 - 153,079,545NCBI
CeleraX153,685,095 - 153,719,771 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,101,239 - 142,134,950 (+)NCBIHuRef
CHM1_1X153,435,658 - 153,470,347 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytosol  (IDA)
nucleus  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8838793   PMID:11076863   PMID:11256614   PMID:12477932   PMID:15489334   PMID:15489336   PMID:15772651   PMID:15991799   PMID:16344560   PMID:16381901   PMID:16465194   PMID:16969476  
PMID:17321041   PMID:18302154   PMID:18394773   PMID:18550470   PMID:18615628   PMID:18686341   PMID:19065656   PMID:19331662   PMID:19419973   PMID:19655166   PMID:20103683   PMID:20200485  
PMID:20385008   PMID:20592357   PMID:20596653   PMID:20826743   PMID:20884117   PMID:21854597   PMID:21873635   PMID:21980427   PMID:22027741   PMID:22445516   PMID:22658715   PMID:22803947  
PMID:23118983   PMID:23130932   PMID:23261987   PMID:23446634   PMID:24193262   PMID:24304513   PMID:24390277   PMID:25572961   PMID:26032094   PMID:26187043   PMID:26349965   PMID:26406948  
PMID:26650256   PMID:26907172   PMID:27916418   PMID:28514442   PMID:29885837   PMID:30044385   PMID:30119993   PMID:30646877   PMID:31771043   PMID:32434192   PMID:33109565  


Genomics

Comparative Map Data
TKTL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,295,795 - 154,330,350 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,295,795 - 154,330,350 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,524,148 - 153,558,700 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,177,345 - 153,211,894 (+)NCBINCBI36hg18NCBI36
Build 34X153,044,997 - 153,079,545NCBI
CeleraX153,685,095 - 153,719,771 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,101,239 - 142,134,950 (+)NCBIHuRef
CHM1_1X153,435,658 - 153,470,347 (+)NCBICHM1_1
Tktl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,220,865 - 73,252,104 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,220,865 - 73,252,106 (+)Ensembl
GRCm38X74,177,259 - 74,208,498 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,177,259 - 74,208,500 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,422,598 - 71,453,837 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,430,004 - 70,461,211 (+)NCBImm8
CeleraX65,429,659 - 65,462,614 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
Tktl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,954,261 - 151,987,208 (+)NCBI
Rnor_6.0 EnsemblX156,507,797 - 156,540,733 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,507,797 - 156,540,733 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,248,857 - 152,281,793 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01151,506,633 - 151,523,468 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,144,916 - 160,177,852 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1135,909,517 - 135,940,852 (-)NCBICelera
Cytogenetic MapXq37NCBI
Tktl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580829,594 - 851,470 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580829,653 - 851,422 (+)NCBIChiLan1.0ChiLan1.0
TKTL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v0X143,736,589 - 143,772,277 (+)NCBIMhudiblu_PPA_v0panPan3
TKTL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,007,270 - 122,034,500 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,007,282 - 122,034,255 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,336,003 - 107,363,191 (+)NCBI
ROS_Cfam_1.0X125,148,940 - 125,176,143 (+)NCBI
UMICH_Zoey_3.1X120,918,050 - 120,945,228 (+)NCBI
UNSW_CanFamBas_1.0X123,433,366 - 123,460,383 (+)NCBI
UU_Cfam_GSD_1.0X123,194,859 - 123,221,957 (+)NCBI
Tktl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,310,855 - 119,346,858 (+)NCBI
SpeTri2.0NW_0049368091,048,672 - 1,084,125 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TKTL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,840,521 - 124,866,663 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,840,072 - 124,867,313 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TKTL1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,607,766 - 128,642,074 (+)NCBI
ChlSab1.1 EnsemblX128,607,901 - 128,642,063 (+)Ensembl
Tktl1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946760,078 - 775,073 (+)NCBI

Position Markers
G42838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,524,987 - 153,525,555UniSTSGRCh37
Build 36X153,178,181 - 153,178,749RGDNCBI36
CeleraX153,686,056 - 153,686,624RGD
Cytogenetic MapXq28UniSTS
G66673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,525,969 - 153,526,522UniSTSGRCh37
Build 36X153,179,163 - 153,179,716RGDNCBI36
CeleraX153,687,038 - 153,687,591RGD
Cytogenetic MapXq28UniSTS
HuRefX142,103,247 - 142,103,800UniSTS
G66672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,524,349 - 153,525,056UniSTSGRCh37
Build 36X153,177,543 - 153,178,250RGDNCBI36
CeleraX153,685,417 - 153,686,125RGD
Cytogenetic MapXq28UniSTS
HuRefX142,101,561 - 142,102,269UniSTS
SHGC-172421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,558,153 - 153,558,496UniSTSGRCh37
Build 36X153,211,347 - 153,211,690RGDNCBI36
CeleraX153,719,211 - 153,719,554RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,134,390 - 142,134,733UniSTS
ECD01013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,292,607 - 245,293,459UniSTSGRCh37
GRCh37X153,531,896 - 153,532,777UniSTSGRCh37
Build 36X153,185,090 - 153,185,971RGDNCBI36
CeleraX153,692,951 - 153,693,831RGD
Celera1218,581,478 - 218,582,330UniSTS
Cytogenetic MapXq28UniSTS
HuRef1215,675,729 - 215,676,581UniSTS
HuRefX142,109,027 - 142,109,907UniSTS
ECD01135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,555,711 - 153,556,587UniSTSGRCh37
Build 36X153,208,905 - 153,209,781RGDNCBI36
CeleraX153,716,773 - 153,717,649RGD
Cytogenetic MapXq28UniSTS
ECD02392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,550,903 - 153,551,734UniSTSGRCh37
Build 36X153,204,097 - 153,204,928RGDNCBI36
CeleraX153,711,965 - 153,712,796RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,127,716 - 142,128,547UniSTS
ECD04957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,523,184 - 153,523,933UniSTSGRCh37
Build 36X153,176,378 - 153,177,127RGDNCBI36
CeleraX153,684,252 - 153,685,001RGD
Cytogenetic MapXq28UniSTS
HuRefX142,100,418 - 142,101,145UniSTS
ECD05169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,524,020 - 153,524,763UniSTSGRCh37
Build 36X153,177,214 - 153,177,957RGDNCBI36
CeleraX153,685,088 - 153,685,831RGD
Cytogenetic MapXq28UniSTS
HuRefX142,101,232 - 142,101,975UniSTS
ECD05237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,553,304 - 153,554,045UniSTSGRCh37
Build 36X153,206,498 - 153,207,239RGDNCBI36
CeleraX153,714,366 - 153,715,107RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,130,117 - 142,130,858UniSTS
ECD05457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,535,619 - 153,536,354UniSTSGRCh37
Build 36X153,188,813 - 153,189,548RGDNCBI36
CeleraX153,696,673 - 153,697,408RGD
Cytogenetic MapXq28UniSTS
HuRefX142,112,749 - 142,113,484UniSTS
ECD08201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,532,952 - 153,533,613UniSTSGRCh37
Build 36X153,186,146 - 153,186,807RGDNCBI36
CeleraX153,694,006 - 153,694,667RGD
Cytogenetic MapXq28UniSTS
HuRefX142,110,082 - 142,110,743UniSTS
ECD08307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,533,680 - 153,534,338UniSTSGRCh37
Build 36X153,186,874 - 153,187,532RGDNCBI36
CeleraX153,694,734 - 153,695,392RGD
Cytogenetic MapXq28UniSTS
HuRefX142,110,810 - 142,111,468UniSTS
ECD08610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,548,974 - 153,549,624UniSTSGRCh37
Build 36X153,202,168 - 153,202,818RGDNCBI36
CeleraX153,710,035 - 153,710,685RGD
Cytogenetic MapXq28UniSTS
HuRefX142,125,786 - 142,126,436UniSTS
ECD08611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,549,715 - 153,550,365UniSTSGRCh37
Build 36X153,202,909 - 153,203,559RGDNCBI36
CeleraX153,710,776 - 153,711,427RGD
Cytogenetic MapXq28UniSTS
HuRefX142,126,527 - 142,127,178UniSTS
ECD08882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,548,260 - 153,548,903UniSTSGRCh37
Build 36X153,201,454 - 153,202,097RGDNCBI36
CeleraX153,709,321 - 153,709,964RGD
Cytogenetic MapXq28UniSTS
HuRefX142,125,072 - 142,125,715UniSTS
ECD09691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,557,619 - 153,558,241UniSTSGRCh37
Build 36X153,210,813 - 153,211,435RGDNCBI36
CeleraX153,718,677 - 153,719,299RGD
Cytogenetic MapXq28UniSTS
ECD10096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,558,283 - 153,558,894UniSTSGRCh37
Build 36X153,211,477 - 153,212,088RGDNCBI36
CeleraX153,719,341 - 153,719,952RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,134,520 - 142,135,131UniSTS
ECD10929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,543,210 - 153,543,797UniSTSGRCh37
Build 36X153,196,404 - 153,196,991RGDNCBI36
CeleraX153,704,266 - 153,704,853RGD
Cytogenetic MapXq28UniSTS
HuRefX142,120,017 - 142,120,604UniSTS
ECD11181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,554,805 - 153,555,385UniSTSGRCh37
Build 36X153,207,999 - 153,208,579RGDNCBI36
CeleraX153,715,867 - 153,716,447RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,131,715 - 142,132,295UniSTS
ECD11603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,543,821 - 153,544,388UniSTSGRCh37
Build 36X153,197,015 - 153,197,582RGDNCBI36
CeleraX153,704,877 - 153,705,446RGD
Cytogenetic MapXq28UniSTS
HuRefX142,120,628 - 142,121,197UniSTS
ECD11948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,538,810 - 153,539,367UniSTSGRCh37
Build 36X153,192,004 - 153,192,561RGDNCBI36
CeleraX153,699,865 - 153,700,422RGD
Cytogenetic MapXq28UniSTS
HuRefX142,115,807 - 142,116,364UniSTS
ECD12054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,539,430 - 153,539,984UniSTSGRCh37
Build 36X153,192,624 - 153,193,178RGDNCBI36
CeleraX153,700,485 - 153,701,039RGD
Cytogenetic MapXq28UniSTS
HuRefX142,116,427 - 142,116,811UniSTS
ECD12316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,537,547 - 153,538,094UniSTSGRCh37
Build 36X153,190,741 - 153,191,288RGDNCBI36
CeleraX153,698,601 - 153,699,148RGD
Cytogenetic MapXq28UniSTS
HuRefX142,114,677 - 142,115,224UniSTS
ECD12649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,540,755 - 153,541,293UniSTSGRCh37
Build 36X153,193,949 - 153,194,487RGDNCBI36
CeleraX153,701,810 - 153,702,348RGD
Cytogenetic MapXq28UniSTS
HuRefX142,117,582 - 142,118,120UniSTS
ECD13825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,541,479 - 153,541,987UniSTSGRCh37
Build 36X153,194,673 - 153,195,181RGDNCBI36
CeleraX153,702,534 - 153,703,042RGD
Cytogenetic MapXq28UniSTS
ECD13906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,537,014 - 153,537,520UniSTSGRCh37
Build 36X153,190,208 - 153,190,714RGDNCBI36
CeleraX153,698,068 - 153,698,574RGD
Cytogenetic MapXq28UniSTS
HuRefX142,114,144 - 142,114,650UniSTS
ECD15858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,551,983 - 153,552,443UniSTSGRCh37
Build 36X153,205,177 - 153,205,637RGDNCBI36
CeleraX153,713,045 - 153,713,505RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,128,796 - 142,129,256UniSTS
ECD18559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,294,712 - 245,295,065UniSTSGRCh37
GRCh37X153,530,321 - 153,530,676UniSTSGRCh37
Build 36X153,183,515 - 153,183,870RGDNCBI36
CeleraX153,691,391 - 153,691,746RGD
Celera1218,583,583 - 218,583,936UniSTS
Cytogenetic MapXq28UniSTS
HuRef1215,677,834 - 215,678,187UniSTS
HuRefX142,107,465 - 142,107,820UniSTS
ECD20687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,534,671 - 153,534,946UniSTSGRCh37
Build 36X153,187,865 - 153,188,140RGDNCBI36
CeleraX153,695,725 - 153,696,000RGD
Cytogenetic MapXq28UniSTS
HuRefX142,111,801 - 142,112,076UniSTS
ECD22884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,529,892 - 153,530,097UniSTSGRCh37
Build 36X153,183,086 - 153,183,291RGDNCBI36
CeleraX153,690,962 - 153,691,167RGD
Cytogenetic MapXq28UniSTS
ECD23440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,545,443 - 153,545,632UniSTSGRCh37
Build 36X153,198,637 - 153,198,826RGDNCBI36
CeleraX153,706,502 - 153,706,691RGD
Cytogenetic MapXq28UniSTS
HuRefX142,122,253 - 142,122,442UniSTS
REN89067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,522,607 - 153,522,859UniSTSGRCh37
Build 36X153,175,801 - 153,176,053RGDNCBI36
CeleraX153,683,675 - 153,683,927RGD
Cytogenetic MapXq28UniSTS
HuRefX142,099,840 - 142,100,093UniSTS
REN89068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,522,617 - 153,522,860UniSTSGRCh37
Build 36X153,175,811 - 153,176,054RGDNCBI36
CeleraX153,683,685 - 153,683,928RGD
Cytogenetic MapXq28UniSTS
HuRefX142,099,850 - 142,100,094UniSTS
REN89069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,523,087 - 153,523,315UniSTSGRCh37
Build 36X153,176,281 - 153,176,509RGDNCBI36
CeleraX153,684,155 - 153,684,383RGD
Cytogenetic MapXq28UniSTS
HuRefX142,100,321 - 142,100,549UniSTS
REN89070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,523,301 - 153,523,551UniSTSGRCh37
Build 36X153,176,495 - 153,176,745RGDNCBI36
CeleraX153,684,369 - 153,684,619RGD
Cytogenetic MapXq28UniSTS
HuRefX142,100,535 - 142,100,785UniSTS
REN89071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,523,528 - 153,523,753UniSTSGRCh37
Build 36X153,176,722 - 153,176,947RGDNCBI36
CeleraX153,684,596 - 153,684,821RGD
Cytogenetic MapXq28UniSTS
HuRefX142,100,762 - 142,100,987UniSTS
REN89072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,523,732 - 153,523,983UniSTSGRCh37
Build 36X153,176,926 - 153,177,177RGDNCBI36
CeleraX153,684,800 - 153,685,051RGD
Cytogenetic MapXq28UniSTS
HuRefX142,100,966 - 142,101,195UniSTS
REN89073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,523,961 - 153,524,214UniSTSGRCh37
Build 36X153,177,155 - 153,177,408RGDNCBI36
CeleraX153,685,029 - 153,685,282RGD
Cytogenetic MapXq28UniSTS
HuRefX142,101,173 - 142,101,426UniSTS
REN89074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,524,191 - 153,524,456UniSTSGRCh37
Build 36X153,177,385 - 153,177,650RGDNCBI36
CeleraX153,685,259 - 153,685,524RGD
Cytogenetic MapXq28UniSTS
HuRefX142,101,403 - 142,101,668UniSTS
REN89075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,524,427 - 153,524,659UniSTSGRCh37
Build 36X153,177,621 - 153,177,853RGDNCBI36
CeleraX153,685,495 - 153,685,727RGD
Cytogenetic MapXq28UniSTS
HuRefX142,101,639 - 142,101,871UniSTS
REN89076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,524,591 - 153,524,826UniSTSGRCh37
Build 36X153,177,785 - 153,178,020RGDNCBI36
CeleraX153,685,659 - 153,685,895RGD
Cytogenetic MapXq28UniSTS
HuRefX142,101,803 - 142,102,039UniSTS
REN89077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,524,781 - 153,525,051UniSTSGRCh37
GRCh37X153,524,781 - 153,525,974UniSTSGRCh37
Build 36X153,177,975 - 153,178,245RGDNCBI36
CeleraX153,685,850 - 153,687,043UniSTS
CeleraX153,685,850 - 153,686,120RGD
Cytogenetic MapXq28UniSTS
HuRefX142,101,994 - 142,102,264UniSTS
HuRefX142,101,994 - 142,103,252UniSTS
REN89078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,525,028 - 153,525,293UniSTSGRCh37
Build 36X153,178,222 - 153,178,487RGDNCBI36
CeleraX153,686,097 - 153,686,362RGD
Cytogenetic MapXq28UniSTS
REN89079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,525,267 - 153,525,523UniSTSGRCh37
Build 36X153,178,461 - 153,178,717RGDNCBI36
CeleraX153,686,336 - 153,686,592RGD
Cytogenetic MapXq28UniSTS
REN89080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,525,381 - 153,525,648UniSTSGRCh37
Build 36X153,178,575 - 153,178,842RGDNCBI36
CeleraX153,686,450 - 153,686,717RGD
Cytogenetic MapXq28UniSTS
REN89081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,525,902 - 153,526,135UniSTSGRCh37
Build 36X153,179,096 - 153,179,329RGDNCBI36
CeleraX153,686,971 - 153,687,204RGD
Cytogenetic MapXq28UniSTS
HuRefX142,103,180 - 142,103,413UniSTS
REN89082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,526,112 - 153,526,353UniSTSGRCh37
Build 36X153,179,306 - 153,179,547RGDNCBI36
CeleraX153,687,181 - 153,687,422RGD
Cytogenetic MapXq28UniSTS
HuRefX142,103,390 - 142,103,631UniSTS
REN89083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,526,335 - 153,526,603UniSTSGRCh37
Build 36X153,179,529 - 153,179,797RGDNCBI36
CeleraX153,687,404 - 153,687,672RGD
Cytogenetic MapXq28UniSTS
HuRefX142,103,613 - 142,103,881UniSTS
REN89084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,526,531 - 153,526,789UniSTSGRCh37
Build 36X153,179,725 - 153,179,983RGDNCBI36
CeleraX153,687,600 - 153,687,858RGD
Cytogenetic MapXq28UniSTS
HuRefX142,103,809 - 142,104,067UniSTS
REN89085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,526,766 - 153,527,017UniSTSGRCh37
Build 36X153,179,960 - 153,180,211RGDNCBI36
CeleraX153,687,835 - 153,688,086RGD
Cytogenetic MapXq28UniSTS
REN89086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,526,916 - 153,527,165UniSTSGRCh37
Build 36X153,180,110 - 153,180,359RGDNCBI36
CeleraX153,687,985 - 153,688,234RGD
Cytogenetic MapXq28UniSTS
REN89087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,527,142 - 153,527,412UniSTSGRCh37
Build 36X153,180,336 - 153,180,606RGDNCBI36
CeleraX153,688,211 - 153,688,481RGD
Cytogenetic MapXq28UniSTS
REN89088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,527,357 - 153,527,593UniSTSGRCh37
Build 36X153,180,551 - 153,180,787RGDNCBI36
CeleraX153,688,426 - 153,688,662RGD
Cytogenetic MapXq28UniSTS
HuRefX142,104,793 - 142,105,030UniSTS
REN89089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,527,643 - 153,527,885UniSTSGRCh37
Build 36X153,180,837 - 153,181,079RGDNCBI36
CeleraX153,688,712 - 153,688,954RGD
Cytogenetic MapXq28UniSTS
HuRefX142,105,080 - 142,105,322UniSTS
REN89090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,527,856 - 153,528,096UniSTSGRCh37
Build 36X153,181,050 - 153,181,290RGDNCBI36
CeleraX153,688,925 - 153,689,165RGD
Cytogenetic MapXq28UniSTS
HuRefX142,105,293 - 142,105,533UniSTS
REN89091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,528,006 - 153,528,255UniSTSGRCh37
Build 36X153,181,200 - 153,181,449RGDNCBI36
CeleraX153,689,075 - 153,689,324RGD
Cytogenetic MapXq28UniSTS
HuRefX142,105,443 - 142,105,692UniSTS
REN89092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,528,576 - 153,528,802UniSTSGRCh37
Build 36X153,181,770 - 153,181,996RGDNCBI36
CeleraX153,689,646 - 153,689,872RGD
Cytogenetic MapXq28UniSTS
HuRefX142,106,015 - 142,106,241UniSTS
REN89093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,528,772 - 153,529,003UniSTSGRCh37
Build 36X153,181,966 - 153,182,197RGDNCBI36
CeleraX153,689,842 - 153,690,073RGD
Cytogenetic MapXq28UniSTS
HuRefX142,106,211 - 142,106,442UniSTS
REN89094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,528,932 - 153,529,176UniSTSGRCh37
Build 36X153,182,126 - 153,182,370RGDNCBI36
CeleraX153,690,002 - 153,690,246RGD
Cytogenetic MapXq28UniSTS
HuRefX142,106,371 - 142,106,615UniSTS
REN89095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,529,019 - 153,529,252UniSTSGRCh37
Build 36X153,182,213 - 153,182,446RGDNCBI36
CeleraX153,690,089 - 153,690,322RGD
Cytogenetic MapXq28UniSTS
HuRefX142,106,458 - 142,106,691UniSTS
REN89096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,529,224 - 153,529,462UniSTSGRCh37
Build 36X153,182,418 - 153,182,656RGDNCBI36
CeleraX153,690,294 - 153,690,532RGD
Cytogenetic MapXq28UniSTS
HuRefX142,106,663 - 142,106,901UniSTS
REN89097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,529,341 - 153,529,593UniSTSGRCh37
Build 36X153,182,535 - 153,182,787RGDNCBI36
CeleraX153,690,411 - 153,690,663RGD
Cytogenetic MapXq28UniSTS
HuRefX142,106,780 - 142,107,032UniSTS
REN89098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,529,518 - 153,529,763UniSTSGRCh37
Build 36X153,182,712 - 153,182,957RGDNCBI36
CeleraX153,690,588 - 153,690,833RGD
Cytogenetic MapXq28UniSTS
REN89099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,530,077 - 153,530,338UniSTSGRCh37
Build 36X153,183,271 - 153,183,532RGDNCBI36
CeleraX153,691,147 - 153,691,408RGD
Cytogenetic MapXq28UniSTS
HuRefX142,107,221 - 142,107,482UniSTS
REN89100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,530,320 - 153,530,550UniSTSGRCh37
Build 36X153,183,514 - 153,183,744RGDNCBI36
CeleraX153,691,390 - 153,691,620RGD
Cytogenetic MapXq28UniSTS
HuRefX142,107,464 - 142,107,694UniSTS
REN89101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,530,529 - 153,530,773UniSTSGRCh37
Build 36X153,183,723 - 153,183,967RGDNCBI36
CeleraX153,691,599 - 153,691,843RGD
Cytogenetic MapXq28UniSTS
HuRefX142,107,673 - 142,107,917UniSTS
REN89102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,530,754 - 153,530,981UniSTSGRCh37
Build 36X153,183,948 - 153,184,175RGDNCBI36
CeleraX153,691,824 - 153,692,051RGD
Cytogenetic MapXq28UniSTS
HuRefX142,107,898 - 142,108,125UniSTS
REN89103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,294,174 - 245,294,427UniSTSGRCh37
GRCh37X153,530,962 - 153,531,215UniSTSGRCh37
Build 36X153,184,156 - 153,184,409RGDNCBI36
CeleraX153,692,032 - 153,692,285RGD
Celera1218,583,045 - 218,583,298UniSTS
Cytogenetic MapXq28UniSTS
HuRef1215,677,296 - 215,677,549UniSTS
HuRefX142,108,106 - 142,108,359UniSTS
REN89104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,531,196 - 153,531,445UniSTSGRCh37
Build 36X153,184,390 - 153,184,639RGDNCBI36
CeleraX153,692,266 - 153,692,515RGD
Cytogenetic MapXq28UniSTS
HuRefX142,108,340 - 142,108,589UniSTS
REN89105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,531,252 - 153,531,515UniSTSGRCh37
Build 36X153,184,446 - 153,184,709RGDNCBI36
CeleraX153,692,322 - 153,692,585RGD
Cytogenetic MapXq28UniSTS
HuRefX142,108,396 - 142,108,659UniSTS
REN89106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,531,837 - 153,532,087UniSTSGRCh37
Build 36X153,185,031 - 153,185,281RGDNCBI36
CeleraX153,692,892 - 153,693,141RGD
Cytogenetic MapXq28UniSTS
HuRefX142,108,968 - 142,109,217UniSTS
REN89107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,293,044 - 245,293,294UniSTSGRCh37
GRCh37X153,532,063 - 153,532,313UniSTSGRCh37
Build 36X153,185,257 - 153,185,507RGDNCBI36
CeleraX153,693,117 - 153,693,367RGD
Celera1218,581,915 - 218,582,165UniSTS
Cytogenetic MapXq28UniSTS
HuRef1215,676,166 - 215,676,416UniSTS
HuRefX142,109,193 - 142,109,443UniSTS
REN89108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,532,302 - 153,532,559UniSTSGRCh37
Build 36X153,185,496 - 153,185,753RGDNCBI36
CeleraX153,693,356 - 153,693,613RGD
Cytogenetic MapXq28UniSTS
HuRefX142,109,432 - 142,109,689UniSTS
REN89109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,532,531 - 153,532,755UniSTSGRCh37
Build 36X153,185,725 - 153,185,949RGDNCBI36
CeleraX153,693,585 - 153,693,809RGD
Cytogenetic MapXq28UniSTS
HuRefX142,109,661 - 142,109,885UniSTS
REN89110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,532,734 - 153,533,003UniSTSGRCh37
Build 36X153,185,928 - 153,186,197RGDNCBI36
CeleraX153,693,788 - 153,694,057RGD
Cytogenetic MapXq28UniSTS
HuRefX142,109,864 - 142,110,133UniSTS
REN89111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,532,987 - 153,533,232UniSTSGRCh37
Build 36X153,186,181 - 153,186,426RGDNCBI36
CeleraX153,694,041 - 153,694,286RGD
Cytogenetic MapXq28UniSTS
HuRefX142,110,117 - 142,110,362UniSTS
REN89112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,533,209 - 153,533,460UniSTSGRCh37
Build 36X153,186,403 - 153,186,654RGDNCBI36
CeleraX153,694,263 - 153,694,514RGD
Cytogenetic MapXq28UniSTS
HuRefX142,110,339 - 142,110,590UniSTS
REN89113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,533,439 - 153,533,701UniSTSGRCh37
Build 36X153,186,633 - 153,186,895RGDNCBI36
CeleraX153,694,493 - 153,694,755RGD
Cytogenetic MapXq28UniSTS
HuRefX142,110,569 - 142,110,831UniSTS
REN89114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,533,678 - 153,533,917UniSTSGRCh37
Build 36X153,186,872 - 153,187,111RGDNCBI36
CeleraX153,694,732 - 153,694,971RGD
Cytogenetic MapXq28UniSTS
HuRefX142,110,808 - 142,111,047UniSTS
REN89115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,533,914 - 153,534,169UniSTSGRCh37
Build 36X153,187,108 - 153,187,363RGDNCBI36
CeleraX153,694,968 - 153,695,223RGD
Cytogenetic MapXq28UniSTS
HuRefX142,111,044 - 142,111,299UniSTS
REN89116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,534,155 - 153,534,379UniSTSGRCh37
Build 36X153,187,349 - 153,187,573RGDNCBI36
CeleraX153,695,209 - 153,695,433RGD
Cytogenetic MapXq28UniSTS
HuRefX142,111,285 - 142,111,509UniSTS
REN89117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,534,249 - 153,534,493UniSTSGRCh37
Build 36X153,187,443 - 153,187,687RGDNCBI36
CeleraX153,695,303 - 153,695,547RGD
Cytogenetic MapXq28UniSTS
HuRefX142,111,379 - 142,111,623UniSTS
REN89118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,534,477 - 153,534,733UniSTSGRCh37
Build 36X153,187,671 - 153,187,927RGDNCBI36
CeleraX153,695,531 - 153,695,787RGD
Cytogenetic MapXq28UniSTS
HuRefX142,111,607 - 142,111,863UniSTS
REN89119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,534,710 - 153,534,956UniSTSGRCh37
Build 36X153,187,904 - 153,188,150RGDNCBI36
CeleraX153,695,764 - 153,696,010RGD
Cytogenetic MapXq28UniSTS
HuRefX142,111,840 - 142,112,086UniSTS
REN89120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,534,913 - 153,535,137UniSTSGRCh37
Build 36X153,188,107 - 153,188,331RGDNCBI36
CeleraX153,695,967 - 153,696,191RGD
Cytogenetic MapXq28UniSTS
HuRefX142,112,043 - 142,112,267UniSTS
REN89121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,535,105 - 153,535,372UniSTSGRCh37
Build 36X153,188,299 - 153,188,566RGDNCBI36
CeleraX153,696,159 - 153,696,426RGD
Cytogenetic MapXq28UniSTS
HuRefX142,112,235 - 142,112,502UniSTS
REN89122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,535,326 - 153,535,564UniSTSGRCh37
Build 36X153,188,520 - 153,188,758RGDNCBI36
CeleraX153,696,380 - 153,696,618RGD
Cytogenetic MapXq28UniSTS
HuRefX142,112,456 - 142,112,694UniSTS
REN89123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,535,531 - 153,535,796UniSTSGRCh37
Build 36X153,188,725 - 153,188,990RGDNCBI36
CeleraX153,696,585 - 153,696,850RGD
Cytogenetic MapXq28UniSTS
HuRefX142,112,661 - 142,112,926UniSTS
REN89124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,535,775 - 153,536,015UniSTSGRCh37
Build 36X153,188,969 - 153,189,209RGDNCBI36
CeleraX153,696,829 - 153,697,069RGD
Cytogenetic MapXq28UniSTS
HuRefX142,112,905 - 142,113,145UniSTS
REN89125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,535,995 - 153,536,262UniSTSGRCh37
Build 36X153,189,189 - 153,189,456RGDNCBI36
CeleraX153,697,049 - 153,697,316RGD
Cytogenetic MapXq28UniSTS
HuRefX142,113,125 - 142,113,392UniSTS
REN89126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,536,240 - 153,536,490UniSTSGRCh37
Build 36X153,189,434 - 153,189,684RGDNCBI36
CeleraX153,697,294 - 153,697,544RGD
Cytogenetic MapXq28UniSTS
HuRefX142,113,370 - 142,113,620UniSTS
REN89127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,536,465 - 153,536,710UniSTSGRCh37
Build 36X153,189,659 - 153,189,904RGDNCBI36
CeleraX153,697,519 - 153,697,764RGD
Cytogenetic MapXq28UniSTS
HuRefX142,113,595 - 142,113,840UniSTS
REN89128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,536,689 - 153,536,946UniSTSGRCh37
Build 36X153,189,883 - 153,190,140RGDNCBI36
CeleraX153,697,743 - 153,698,000RGD
Cytogenetic MapXq28UniSTS
HuRefX142,113,819 - 142,114,076UniSTS
REN89129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,536,922 - 153,537,167UniSTSGRCh37
Build 36X153,190,116 - 153,190,361RGDNCBI36
CeleraX153,697,976 - 153,698,221RGD
Cytogenetic MapXq28UniSTS
HuRefX142,114,052 - 142,114,297UniSTS
REN89130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,537,140 - 153,537,382UniSTSGRCh37
Build 36X153,190,334 - 153,190,576RGDNCBI36
CeleraX153,698,194 - 153,698,436RGD
Cytogenetic MapXq28UniSTS
HuRefX142,114,270 - 142,114,512UniSTS
REN89131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,537,359 - 153,537,619UniSTSGRCh37
Build 36X153,190,553 - 153,190,813RGDNCBI36
CeleraX153,698,413 - 153,698,673RGD
Cytogenetic MapXq28UniSTS
HuRefX142,114,489 - 142,114,749UniSTS
REN89132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,537,597 - 153,537,849UniSTSGRCh37
Build 36X153,190,791 - 153,191,043RGDNCBI36
CeleraX153,698,651 - 153,698,903RGD
Cytogenetic MapXq28UniSTS
HuRefX142,114,727 - 142,114,979UniSTS
REN89133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,537,826 - 153,538,081UniSTSGRCh37
Build 36X153,191,020 - 153,191,275RGDNCBI36
CeleraX153,698,880 - 153,699,135RGD
Cytogenetic MapXq28UniSTS
HuRefX142,114,956 - 142,115,211UniSTS
REN89134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,537,868 - 153,538,104UniSTSGRCh37
Build 36X153,191,062 - 153,191,298RGDNCBI36
CeleraX153,698,922 - 153,699,158RGD
Cytogenetic MapXq28UniSTS
REN89135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,538,466 - 153,538,704UniSTSGRCh37
Build 36X153,191,660 - 153,191,898RGDNCBI36
CeleraX153,699,520 - 153,699,759RGD
Cytogenetic MapXq28UniSTS
HuRefX142,115,462 - 142,115,701UniSTS
REN89136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,538,679 - 153,538,919UniSTSGRCh37
Build 36X153,191,873 - 153,192,113RGDNCBI36
CeleraX153,699,734 - 153,699,974RGD
Cytogenetic MapXq28UniSTS
HuRefX142,115,676 - 142,115,916UniSTS
REN89137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,538,914 - 153,539,145UniSTSGRCh37
Build 36X153,192,108 - 153,192,339RGDNCBI36
CeleraX153,699,969 - 153,700,200RGD
Cytogenetic MapXq28UniSTS
HuRefX142,115,911 - 142,116,142UniSTS
REN89138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,539,102 - 153,539,366UniSTSGRCh37
Build 36X153,192,296 - 153,192,560RGDNCBI36
CeleraX153,700,157 - 153,700,421RGD
Cytogenetic MapXq28UniSTS
HuRefX142,116,099 - 142,116,363UniSTS
REN89139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,539,333 - 153,539,570UniSTSGRCh37
Build 36X153,192,527 - 153,192,764RGDNCBI36
CeleraX153,700,388 - 153,700,625RGD
Cytogenetic MapXq28UniSTS
REN89140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,539,551 - 153,539,800UniSTSGRCh37
Build 36X153,192,745 - 153,192,994RGDNCBI36
CeleraX153,700,606 - 153,700,855RGD
Cytogenetic MapXq28UniSTS
REN89141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,539,788 - 153,540,031UniSTSGRCh37
Build 36X153,192,982 - 153,193,225RGDNCBI36
CeleraX153,700,843 - 153,701,086RGD
Cytogenetic MapXq28UniSTS
REN89142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,540,025 - 153,540,275UniSTSGRCh37
Build 36X153,193,219 - 153,193,469RGDNCBI36
CeleraX153,701,080 - 153,701,330RGD
Cytogenetic MapXq28UniSTS
HuRefX142,116,852 - 142,117,102UniSTS
REN89143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,540,252 - 153,540,502UniSTSGRCh37
Build 36X153,193,446 - 153,193,696RGDNCBI36
CeleraX153,701,307 - 153,701,557RGD
Cytogenetic MapXq28UniSTS
HuRefX142,117,079 - 142,117,329UniSTS
REN89144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,540,478 - 153,540,729UniSTSGRCh37
Build 36X153,193,672 - 153,193,923RGDNCBI36
CeleraX153,701,533 - 153,701,784RGD
Cytogenetic MapXq28UniSTS
HuRefX142,117,305 - 142,117,556UniSTS
REN89145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,540,706 - 153,540,953UniSTSGRCh37
Build 36X153,193,900 - 153,194,147RGDNCBI36
CeleraX153,701,761 - 153,702,008RGD
Cytogenetic MapXq28UniSTS
HuRefX142,117,533 - 142,117,780UniSTS
REN89146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,540,930 - 153,541,184UniSTSGRCh37
Build 36X153,194,124 - 153,194,378RGDNCBI36
CeleraX153,701,985 - 153,702,239RGD
Cytogenetic MapXq28UniSTS
HuRefX142,117,757 - 142,118,011UniSTS
REN89147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,541,168 - 153,541,423UniSTSGRCh37
Build 36X153,194,362 - 153,194,617RGDNCBI36
CeleraX153,702,223 - 153,702,478RGD
Cytogenetic MapXq28UniSTS
HuRefX142,117,995 - 142,118,250UniSTS
REN89148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,541,393 - 153,541,618UniSTSGRCh37
Build 36X153,194,587 - 153,194,812RGDNCBI36
CeleraX153,702,448 - 153,702,673RGD
Cytogenetic MapXq28UniSTS
REN89149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,541,595 - 153,541,820UniSTSGRCh37
Build 36X153,194,789 - 153,195,014RGDNCBI36
CeleraX153,702,650 - 153,702,875RGD
Cytogenetic MapXq28UniSTS
REN89150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,541,778 - 153,542,005UniSTSGRCh37
Build 36X153,194,972 - 153,195,199RGDNCBI36
CeleraX153,702,833 - 153,703,060RGD
Cytogenetic MapXq28UniSTS
REN89151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,541,966 - 153,542,233UniSTSGRCh37
Build 36X153,195,160 - 153,195,427RGDNCBI36
CeleraX153,703,021 - 153,703,289RGD
Cytogenetic MapXq28UniSTS
HuRefX142,118,772 - 142,119,040UniSTS
REN89152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,542,210 - 153,542,437UniSTSGRCh37
Build 36X153,195,404 - 153,195,631RGDNCBI36
CeleraX153,703,266 - 153,703,493RGD
Cytogenetic MapXq28UniSTS
HuRefX142,119,017 - 142,119,244UniSTS
REN89153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,542,417 - 153,542,653UniSTSGRCh37
Build 36X153,195,611 - 153,195,847RGDNCBI36
CeleraX153,703,473 - 153,703,709RGD
Cytogenetic MapXq28UniSTS
HuRefX142,119,224 - 142,119,460UniSTS
REN89154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,542,631 - 153,542,883UniSTSGRCh37
Build 36X153,195,825 - 153,196,077RGDNCBI36
CeleraX153,703,687 - 153,703,939RGD
Cytogenetic MapXq28UniSTS
HuRefX142,119,438 - 142,119,690UniSTS
REN89155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,543,162 - 153,543,386UniSTSGRCh37
Build 36X153,196,356 - 153,196,580RGDNCBI36
CeleraX153,704,218 - 153,704,442RGD
Cytogenetic MapXq28UniSTS
HuRefX142,119,969 - 142,120,193UniSTS
REN89156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,543,348 - 153,543,588UniSTSGRCh37
Build 36X153,196,542 - 153,196,782RGDNCBI36
CeleraX153,704,404 - 153,704,644RGD
Cytogenetic MapXq28UniSTS
HuRefX142,120,155 - 142,120,395UniSTS
REN89157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,543,550 - 153,543,799UniSTSGRCh37
Build 36X153,196,744 - 153,196,993RGDNCBI36
CeleraX153,704,606 - 153,704,855RGD
Cytogenetic MapXq28UniSTS
HuRefX142,120,357 - 142,120,606UniSTS
REN89158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,543,775 - 153,544,024UniSTSGRCh37
Build 36X153,196,969 - 153,197,218RGDNCBI36
CeleraX153,704,831 - 153,705,082RGD
Cytogenetic MapXq28UniSTS
HuRefX142,120,582 - 142,120,833UniSTS
REN89159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,544,021 - 153,544,261UniSTSGRCh37
Build 36X153,197,215 - 153,197,455RGDNCBI36
CeleraX153,705,079 - 153,705,319RGD
Cytogenetic MapXq28UniSTS
HuRefX142,120,830 - 142,121,070UniSTS
REN89160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,544,238 - 153,544,491UniSTSGRCh37
Build 36X153,197,432 - 153,197,685RGDNCBI36
CeleraX153,705,296 - 153,705,549RGD
Cytogenetic MapXq28UniSTS
HuRefX142,121,047 - 142,121,300UniSTS
REN89161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,544,761 - 153,544,985UniSTSGRCh37
Build 36X153,197,955 - 153,198,179RGDNCBI36
CeleraX153,705,819 - 153,706,043RGD
Cytogenetic MapXq28UniSTS
HuRefX142,121,570 - 142,121,794UniSTS
REN89162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,544,839 - 153,545,066UniSTSGRCh37
Build 36X153,198,033 - 153,198,260RGDNCBI36
CeleraX153,705,897 - 153,706,124RGD
Cytogenetic MapXq28UniSTS
HuRefX142,121,648 - 142,121,875UniSTS
REN89163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,545,413 - 153,545,639UniSTSGRCh37
Build 36X153,198,607 - 153,198,833RGDNCBI36
CeleraX153,706,472 - 153,706,698RGD
Cytogenetic MapXq28UniSTS
HuRefX142,122,223 - 142,122,449UniSTS
REN89164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,545,615 - 153,545,881UniSTSGRCh37
Build 36X153,198,809 - 153,199,075RGDNCBI36
CeleraX153,706,674 - 153,706,940RGD
Cytogenetic MapXq28UniSTS
HuRefX142,122,425 - 142,122,691UniSTS
REN89165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,545,871 - 153,546,096UniSTSGRCh37
Build 36X153,199,065 - 153,199,290RGDNCBI36
CeleraX153,706,930 - 153,707,155RGD
Cytogenetic MapXq28UniSTS
HuRefX142,122,681 - 142,122,906UniSTS
REN89166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,546,075 - 153,546,342UniSTSGRCh37
Build 36X153,199,269 - 153,199,536RGDNCBI36
CeleraX153,707,134 - 153,707,402RGD
Cytogenetic MapXq28UniSTS
HuRefX142,122,885 - 142,123,153UniSTS
REN89167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,546,183 - 153,546,407UniSTSGRCh37
Build 36X153,199,377 - 153,199,601RGDNCBI36
CeleraX153,707,243 - 153,707,467RGD
Cytogenetic MapXq28UniSTS
HuRefX142,122,994 - 142,123,218UniSTS
REN89168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,546,378 - 153,546,618UniSTSGRCh37
Build 36X153,199,572 - 153,199,812RGDNCBI36
CeleraX153,707,438 - 153,707,678RGD
Cytogenetic MapXq28UniSTS
HuRefX142,123,189 - 142,123,429UniSTS
REN89169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,547,129 - 153,547,368UniSTSGRCh37
Build 36X153,200,323 - 153,200,562RGDNCBI36
CeleraX153,708,190 - 153,708,429RGD
Cytogenetic MapXq28UniSTS
HuRefX142,123,942 - 142,124,181UniSTS
REN89170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,547,341 - 153,547,565UniSTSGRCh37
Build 36X153,200,535 - 153,200,759RGDNCBI36
CeleraX153,708,402 - 153,708,626RGD
Cytogenetic MapXq28UniSTS
HuRefX142,124,154 - 142,124,378UniSTS
REN89171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,547,542 - 153,547,810UniSTSGRCh37
Build 36X153,200,736 - 153,201,004RGDNCBI36
CeleraX153,708,603 - 153,708,871RGD
Cytogenetic MapXq28UniSTS
REN89172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,547,641 - 153,547,888UniSTSGRCh37
Build 36X153,200,835 - 153,201,082RGDNCBI36
CeleraX153,708,702 - 153,708,949RGD
Cytogenetic MapXq28UniSTS
HuRefX142,124,454 - 142,124,700UniSTS
REN89173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,547,865 - 153,548,116UniSTSGRCh37
Build 36X153,201,059 - 153,201,310RGDNCBI36
CeleraX153,708,926 - 153,709,177RGD
Cytogenetic MapXq28UniSTS
HuRefX142,124,677 - 142,124,928UniSTS
REN89174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,548,096 - 153,548,339UniSTSGRCh37
Build 36X153,201,290 - 153,201,533RGDNCBI36
CeleraX153,709,157 - 153,709,400RGD
Cytogenetic MapXq28UniSTS
HuRefX142,124,908 - 142,125,151UniSTS
REN89175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,548,314 - 153,548,581UniSTSGRCh37
Build 36X153,201,508 - 153,201,775RGDNCBI36
CeleraX153,709,375 - 153,709,642RGD
Cytogenetic MapXq28UniSTS
HuRefX142,125,126 - 142,125,393UniSTS
REN89176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,548,556 - 153,548,823UniSTSGRCh37
Build 36X153,201,750 - 153,202,017RGDNCBI36
CeleraX153,709,617 - 153,709,884RGD
Cytogenetic MapXq28UniSTS
HuRefX142,125,368 - 142,125,635UniSTS
REN89177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,548,792 - 153,549,039UniSTSGRCh37
Build 36X153,201,986 - 153,202,233RGDNCBI36
CeleraX153,709,853 - 153,710,100RGD
Cytogenetic MapXq28UniSTS
HuRefX142,125,604 - 142,125,851UniSTS
REN89178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,549,012 - 153,549,278UniSTSGRCh37
Build 36X153,202,206 - 153,202,472RGDNCBI36
CeleraX153,710,073 - 153,710,339RGD
Cytogenetic MapXq28UniSTS
HuRefX142,125,824 - 142,126,090UniSTS
REN89179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,549,242 - 153,549,494UniSTSGRCh37
Build 36X153,202,436 - 153,202,688RGDNCBI36
CeleraX153,710,303 - 153,710,555RGD
Cytogenetic MapXq28UniSTS
HuRefX142,126,054 - 142,126,306UniSTS
REN89180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,549,475 - 153,549,738UniSTSGRCh37
Build 36X153,202,669 - 153,202,932RGDNCBI36
CeleraX153,710,536 - 153,710,799RGD
Cytogenetic MapXq28UniSTS
HuRefX142,126,287 - 142,126,550UniSTS
REN89181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,549,731 - 153,549,987UniSTSGRCh37
Build 36X153,202,925 - 153,203,181RGDNCBI36
CeleraX153,710,792 - 153,711,048RGD
Cytogenetic MapXq28UniSTS
HuRefX142,126,543 - 142,126,799UniSTS
REN89182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,549,971 - 153,550,225UniSTSGRCh37
Build 36X153,203,165 - 153,203,419RGDNCBI36
CeleraX153,711,032 - 153,711,287RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,126,783 - 142,127,038UniSTS
REN89183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,550,107 - 153,550,358UniSTSGRCh37
Build 36X153,203,301 - 153,203,552RGDNCBI36
CeleraX153,711,169 - 153,711,420RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,126,920 - 142,127,171UniSTS
REN89184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,550,326 - 153,550,577UniSTSGRCh37
Build 36X153,203,520 - 153,203,771RGDNCBI36
CeleraX153,711,388 - 153,711,639RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,127,139 - 142,127,390UniSTS
REN89185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,550,818 - 153,551,060UniSTSGRCh37
Build 36X153,204,012 - 153,204,254RGDNCBI36
CeleraX153,711,880 - 153,712,122RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,127,631 - 142,127,873UniSTS
REN89186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,551,046 - 153,551,296UniSTSGRCh37
Build 36X153,204,240 - 153,204,490RGDNCBI36
CeleraX153,712,108 - 153,712,358RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,127,859 - 142,128,109UniSTS
REN89187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,551,274 - 153,551,530UniSTSGRCh37
Build 36X153,204,468 - 153,204,724RGDNCBI36
CeleraX153,712,336 - 153,712,592RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,128,087 - 142,128,343UniSTS
REN89188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,551,521 - 153,551,756UniSTSGRCh37
Build 36X153,204,715 - 153,204,950RGDNCBI36
CeleraX153,712,583 - 153,712,818RGD
Cytogenetic MapXq28UniSTS
HuRefX142,128,334 - 142,128,569UniSTS
REN89189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,551,732 - 153,551,981UniSTSGRCh37
Build 36X153,204,926 - 153,205,175RGDNCBI36
CeleraX153,712,794 - 153,713,043RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,128,545 - 142,128,794UniSTS
REN89190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,551,963 - 153,552,232UniSTSGRCh37
Build 36X153,205,157 - 153,205,426RGDNCBI36
CeleraX153,713,025 - 153,713,294RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,128,776 - 142,129,045UniSTS
REN89191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,552,182 - 153,552,419UniSTSGRCh37
Build 36X153,205,376 - 153,205,613RGDNCBI36
CeleraX153,713,244 - 153,713,481RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,128,995 - 142,129,232UniSTS
REN89192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,552,376 - 153,552,638UniSTSGRCh37
Build 36X153,205,570 - 153,205,832RGDNCBI36
CeleraX153,713,438 - 153,713,700RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,129,189 - 142,129,451UniSTS
REN89193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,552,606 - 153,552,838UniSTSGRCh37
Build 36X153,205,800 - 153,206,032RGDNCBI36
CeleraX153,713,668 - 153,713,900RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,129,419 - 142,129,651UniSTS
REN89194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,552,819 - 153,553,056UniSTSGRCh37
Build 36X153,206,013 - 153,206,250RGDNCBI36
CeleraX153,713,881 - 153,714,118RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,129,632 - 142,129,869UniSTS
REN89195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,553,022 - 153,553,274UniSTSGRCh37
Build 36X153,206,216 - 153,206,468RGDNCBI36
CeleraX153,714,084 - 153,714,336RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,129,835 - 142,130,087UniSTS
REN89196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,553,272 - 153,553,505UniSTSGRCh37
Build 36X153,206,466 - 153,206,699RGDNCBI36
CeleraX153,714,334 - 153,714,567RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,130,085 - 142,130,318UniSTS
REN89197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,553,465 - 153,553,723UniSTSGRCh37
Build 36X153,206,659 - 153,206,917RGDNCBI36
CeleraX153,714,527 - 153,714,785RGD
Cytogenetic MapXq28UniSTS
HuRefX142,130,278 - 142,130,536UniSTS
REN89198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,553,707 - 153,553,945UniSTSGRCh37
Build 36X153,206,901 - 153,207,139RGDNCBI36
CeleraX153,714,769 - 153,715,007RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,130,520 - 142,130,758UniSTS
REN89199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,553,918 - 153,554,168UniSTSGRCh37
Build 36X153,207,112 - 153,207,362RGDNCBI36
CeleraX153,714,980 - 153,715,230RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,130,731 - 142,130,981UniSTS
REN89200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,554,145 - 153,554,393UniSTSGRCh37
Build 36X153,207,339 - 153,207,587RGDNCBI36
CeleraX153,715,207 - 153,715,455RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,130,958 - 142,131,303UniSTS
REN89201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,554,366 - 153,554,592UniSTSGRCh37
Build 36X153,207,560 - 153,207,786RGDNCBI36
CeleraX153,715,428 - 153,715,654RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,131,276 - 142,131,502UniSTS
REN89202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,554,573 - 153,554,837UniSTSGRCh37
Build 36X153,207,767 - 153,208,031RGDNCBI36
CeleraX153,715,635 - 153,715,899RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,131,483 - 142,131,747UniSTS
REN89203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,554,833 - 153,555,072UniSTSGRCh37
Build 36X153,208,027 - 153,208,266RGDNCBI36
CeleraX153,715,895 - 153,716,134RGD
Cytogenetic MapXq28UniSTS
HuRefX142,131,743 - 142,131,982UniSTS
REN89204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,555,052 - 153,555,317UniSTSGRCh37
Build 36X153,208,246 - 153,208,511RGDNCBI36
CeleraX153,716,114 - 153,716,379RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,131,962 - 142,132,227UniSTS
REN89205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,555,315 - 153,555,566UniSTSGRCh37
Build 36X153,208,509 - 153,208,760RGDNCBI36
CeleraX153,716,377 - 153,716,628RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,132,225 - 142,132,476UniSTS
REN89206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,555,553 - 153,555,796UniSTSGRCh37
Build 36X153,208,747 - 153,208,990RGDNCBI36
CeleraX153,716,615 - 153,716,858RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,132,463 - 142,132,706UniSTS
REN89207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,555,770 - 153,556,012UniSTSGRCh37
Build 36X153,208,964 - 153,209,206RGDNCBI36
CeleraX153,716,832 - 153,717,074RGD
Cytogenetic MapXq28UniSTS
REN89208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,555,982 - 153,556,235UniSTSGRCh37
Build 36X153,209,176 - 153,209,429RGDNCBI36
CeleraX153,717,044 - 153,717,297RGD
Cytogenetic MapXq28UniSTS
REN89209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,556,212 - 153,556,446UniSTSGRCh37
Build 36X153,209,406 - 153,209,640RGDNCBI36
CeleraX153,717,274 - 153,717,508RGD
Cytogenetic MapXq28UniSTS
REN89210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,556,411 - 153,556,684UniSTSGRCh37
Build 36X153,209,605 - 153,209,878RGDNCBI36
CeleraX153,717,473 - 153,717,746RGD
Cytogenetic MapXq28UniSTS
REN89211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,556,462 - 153,556,686UniSTSGRCh37
Build 36X153,209,656 - 153,209,880RGDNCBI36
CeleraX153,717,524 - 153,717,748RGD
Cytogenetic MapXq28UniSTS
REN89212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,556,954 - 153,557,178UniSTSGRCh37
Build 36X153,210,148 - 153,210,372RGDNCBI36
CeleraX153,718,012 - 153,718,236RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,133,559 - 142,133,783UniSTS
REN89213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,557,170 - 153,557,419UniSTSGRCh37
Build 36X153,210,364 - 153,210,613RGDNCBI36
CeleraX153,718,228 - 153,718,477RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,133,775 - 142,134,024UniSTS
REN89214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,557,373 - 153,557,623UniSTSGRCh37
Build 36X153,210,567 - 153,210,817RGDNCBI36
CeleraX153,718,431 - 153,718,681RGD
Cytogenetic MapXq28UniSTS
REN89215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,557,561 - 153,557,818UniSTSGRCh37
Build 36X153,210,755 - 153,211,012RGDNCBI36
CeleraX153,718,619 - 153,718,876RGD
Cytogenetic MapXq28UniSTS
REN89216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,557,786 - 153,558,039UniSTSGRCh37
Build 36X153,210,980 - 153,211,233RGDNCBI36
CeleraX153,718,844 - 153,719,097RGD
Cytogenetic MapXq28UniSTS
REN89217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,558,016 - 153,558,264UniSTSGRCh37
Build 36X153,211,210 - 153,211,458RGDNCBI36
CeleraX153,719,074 - 153,719,322RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,134,253 - 142,134,501UniSTS
REN89218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,558,239 - 153,558,484UniSTSGRCh37
Build 36X153,211,433 - 153,211,678RGDNCBI36
CeleraX153,719,297 - 153,719,542RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,134,476 - 142,134,721UniSTS
REN89219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,558,456 - 153,558,705UniSTSGRCh37
Build 36X153,211,650 - 153,211,899RGDNCBI36
CeleraX153,719,514 - 153,719,763RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,134,693 - 142,134,942UniSTS
REN89220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,558,651 - 153,558,922UniSTSGRCh37
Build 36X153,211,845 - 153,212,116RGDNCBI36
CeleraX153,719,709 - 153,719,980RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,134,888 - 142,135,159UniSTS
REN89221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,558,876 - 153,559,114UniSTSGRCh37
Build 36X153,212,070 - 153,212,308RGDNCBI36
CeleraX153,719,934 - 153,720,172RGD
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,135,113 - 142,135,351UniSTS
stSG603936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,524,462 - 153,525,514UniSTSGRCh37
Build 36X153,177,656 - 153,178,708RGDNCBI36
CeleraX153,685,530 - 153,686,583RGD
stSG603939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,532,509 - 153,533,985UniSTSGRCh37
Build 36X153,185,703 - 153,187,179RGDNCBI36
CeleraX153,693,563 - 153,695,039RGD
HuRefX142,109,639 - 142,111,115UniSTS
stSG603940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,533,917 - 153,534,946UniSTSGRCh37
Build 36X153,187,111 - 153,188,140RGDNCBI36
CeleraX153,694,971 - 153,696,000RGD
HuRefX142,111,047 - 142,112,076UniSTS
stSG603941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,534,926 - 153,536,048UniSTSGRCh37
Build 36X153,188,120 - 153,189,242RGDNCBI36
CeleraX153,695,980 - 153,697,102RGD
HuRefX142,112,056 - 142,113,178UniSTS
stSG603942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,536,031 - 153,537,164UniSTSGRCh37
Build 36X153,189,225 - 153,190,358RGDNCBI36
CeleraX153,697,085 - 153,698,218RGD
HuRefX142,113,161 - 142,114,294UniSTS
stSG603943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,537,145 - 153,538,417UniSTSGRCh37
Build 36X153,190,339 - 153,191,611RGDNCBI36
CeleraX153,698,199 - 153,699,471RGD
HuRefX142,114,275 - 142,115,413UniSTS
stSG603944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,538,448 - 153,539,675UniSTSGRCh37
Build 36X153,191,642 - 153,192,869RGDNCBI36
CeleraX153,699,502 - 153,700,730RGD
stSG603945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,539,656 - 153,540,865UniSTSGRCh37
Build 36X153,192,850 - 153,194,059RGDNCBI36
CeleraX153,700,711 - 153,701,920RGD
stSG603946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,540,848 - 153,541,852UniSTSGRCh37
Build 36X153,194,042 - 153,195,046RGDNCBI36
CeleraX153,701,903 - 153,702,907RGD
stSG603947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,541,833 - 153,543,320UniSTSGRCh37
Build 36X153,195,027 - 153,196,514RGDNCBI36
CeleraX153,702,888 - 153,704,376RGD
stSG603948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,543,306 - 153,544,327UniSTSGRCh37
Build 36X153,196,500 - 153,197,521RGDNCBI36
CeleraX153,704,362 - 153,705,385RGD
HuRefX142,120,113 - 142,121,136UniSTS
stSG603950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,545,067 - 153,546,311UniSTSGRCh37
Build 36X153,198,261 - 153,199,505RGDNCBI36
CeleraX153,706,125 - 153,707,371RGD
HuRefX142,121,876 - 142,123,122UniSTS
stSG603955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,551,429 - 153,552,443UniSTSGRCh37
Build 36X153,204,623 - 153,205,637RGDNCBI36
CeleraX153,712,491 - 153,713,505RGD
HuRefX142,128,242 - 142,129,256UniSTS
stSG603956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,552,435 - 153,553,721UniSTSGRCh37
Build 36X153,205,629 - 153,206,915RGDNCBI36
CeleraX153,713,497 - 153,714,783RGD
HuRefX142,129,248 - 142,130,534UniSTS
stSG603957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,553,702 - 153,554,950UniSTSGRCh37
Build 36X153,206,896 - 153,208,144RGDNCBI36
CeleraX153,714,764 - 153,716,012RGD
HuRefX142,130,515 - 142,131,860UniSTS
stSG603958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,554,930 - 153,556,103UniSTSGRCh37
Build 36X153,208,124 - 153,209,297RGDNCBI36
CeleraX153,715,992 - 153,717,165RGD
stSG603959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,556,084 - 153,557,178UniSTSGRCh37
Build 36X153,209,278 - 153,210,372RGDNCBI36
CeleraX153,717,146 - 153,718,236RGD
stSG603960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,557,168 - 153,558,582UniSTSGRCh37
Build 36X153,210,362 - 153,211,776RGDNCBI36
CeleraX153,718,226 - 153,719,640RGD
HuRefX142,133,773 - 142,134,819UniSTS
SHGC-58084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,294,899 - 245,295,070UniSTSGRCh37
GRCh37X153,530,316 - 153,530,487UniSTSGRCh37
Build 36X153,183,510 - 153,183,681RGDNCBI36
CeleraX153,691,386 - 153,691,557RGD
Celera1218,583,770 - 218,583,941UniSTS
Cytogenetic MapXq28UniSTS
HuRef1215,678,021 - 215,678,192UniSTS
HuRefX142,107,460 - 142,107,631UniSTS
TNG Radiation Hybrid Map1124346.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2068
Count of miRNA genes:779
Interacting mature miRNAs:888
Transcripts:ENST00000217905, ENST00000369912, ENST00000369915, ENST00000426203, ENST00000426989, ENST00000439635, ENST00000463884, ENST00000465168, ENST00000482044
Prediction methods:Miranda, Pita, 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 adipose tissue appendage entire extraembryonic component
High
Medium 3 234 3 3 237 3 8 22 1 402 8
Low 118 1245 320 26 712 20 358 428 552 43 138 393 6 339 151 1
Below cutoff 2100 1462 1208 467 661 319 3786 1693 2987 265 764 978 152 858 2567 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC245140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG718121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX664723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA505601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB524246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U14622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z49258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369912   ⟹   ENSP00000358928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,305,057 - 154,330,350 (+)Ensembl
RefSeq Acc Id: ENST00000369915   ⟹   ENSP00000358931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,295,795 - 154,330,350 (+)Ensembl
RefSeq Acc Id: ENST00000426203   ⟹   ENSP00000416552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,305,044 - 154,311,146 (+)Ensembl
RefSeq Acc Id: ENST00000426989   ⟹   ENSP00000401111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,304,923 - 154,311,160 (+)Ensembl
RefSeq Acc Id: ENST00000439635   ⟹   ENSP00000399763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,295,799 - 154,312,640 (+)Ensembl
RefSeq Acc Id: ENST00000463884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,327,376 - 154,329,688 (+)Ensembl
RefSeq Acc Id: ENST00000465168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,320,304 - 154,325,385 (+)Ensembl
RefSeq Acc Id: ENST00000482044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,327,184 - 154,327,899 (+)Ensembl
RefSeq Acc Id: NM_001145933   ⟹   NP_001139405
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,295,795 - 154,330,350 (+)NCBI
GRCh37X153,523,979 - 153,558,713 (+)NCBI
HuRefX142,101,239 - 142,134,950 (+)ENTREZGENE
CHM1_1X153,435,658 - 153,470,347 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145934   ⟹   NP_001139406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,305,170 - 154,330,350 (+)NCBI
GRCh37X153,523,979 - 153,558,713 (+)NCBI
HuRefX142,101,239 - 142,134,950 (+)ENTREZGENE
CHM1_1X153,445,041 - 153,470,347 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012253   ⟹   NP_036385
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,295,795 - 154,330,350 (+)NCBI
GRCh37X153,523,979 - 153,558,713 (+)NCBI
Build 36X153,177,345 - 153,211,894 (+)NCBI Archive
HuRefX142,101,239 - 142,134,950 (+)ENTREZGENE
CHM1_1X153,435,658 - 153,470,347 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036385   ⟸   NM_012253
- Peptide Label: isoform a
- UniProtKB: P51854 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139405   ⟸   NM_001145933
- Peptide Label: isoform b
- UniProtKB: B7Z7I0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139406   ⟸   NM_001145934
- Peptide Label: isoform c
- UniProtKB: P51854 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000399763   ⟸   ENST00000439635
RefSeq Acc Id: ENSP00000416552   ⟸   ENST00000426203
RefSeq Acc Id: ENSP00000401111   ⟸   ENST00000426989
RefSeq Acc Id: ENSP00000358931   ⟸   ENST00000369915
RefSeq Acc Id: ENSP00000358928   ⟸   ENST00000369912
Protein Domains
Transket_pyr   TRANSKETOLASE_1

Promoters
RGD ID:6809326
Promoter ID:HG_KWN:68628
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:OTTHUMT00000058924,   OTTHUMT00000132714
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,208,494 - 153,208,994 (+)MPROMDB
RGD ID:13628592
Promoter ID:EPDNEW_H29534
Type:initiation region
Name:TKTL1_2
Description:transketolase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29535  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,295,693 - 154,295,753EPDNEW
RGD ID:13628594
Promoter ID:EPDNEW_H29535
Type:multiple initiation site
Name:TKTL1_1
Description:transketolase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29534  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,295,795 - 154,295,855EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153929344-154367160)x3 copy number gain See cases [RCV000050852] ChrX:153929344..154367160 [GRCh38]
ChrX:153333946..153595528 [GRCh37]
ChrX:152847991..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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:10679-156022206)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 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 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 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX: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:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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
NM_012253.3(TKTL1):c.110G>A (p.Arg37Lys) single nucleotide variant Malignant melanoma [RCV000063952] ChrX:154295969 [GRCh38]
ChrX:153524322 [GRCh37]
ChrX:153177516 [NCBI36]
ChrX:Xq28
not provided
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 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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: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: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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:154154679-154332155)x3 copy number gain See cases [RCV000134633] ChrX:154154679..154332155 [GRCh38]
ChrX:153420154..153560505 [GRCh37]
ChrX:153073348..153213699 [NCBI36]
ChrX:Xq28
benign
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 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 Xq28(chrX:154022039-154312841)x2 copy number gain See cases [RCV000134819] ChrX:154022039..154312841 [GRCh38]
ChrX:153333946..153541192 [GRCh37]
ChrX:152940684..153194386 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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: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-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 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 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: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: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:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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 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 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 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(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 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 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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 Xq28(chrX:154017291-154394658)x3 copy number gain See cases [RCV000141234] ChrX:154017291..154394658 [GRCh38]
ChrX:153333946..153623000 [GRCh37]
ChrX:152935936..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX: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 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 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: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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)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
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 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:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
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: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 Xq28(chrX:153418991-153644258)x3 copy number gain See cases [RCV000511851] ChrX:153418991..153644258 [GRCh37]
ChrX:Xq28
uncertain significance
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
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
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 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:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153322172-153624604)x2 copy number gain not provided [RCV000684742] ChrX:153322172..153624604 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153421285-153528073)x1 copy number loss not provided [RCV000684743] ChrX:153421285..153528073 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153295726)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708412] ChrX:153295726..153599633 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely 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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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 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:153174571-153609996) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000767661] ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NC_000023.10:g.(?_153295726)_(153596478_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794826] ChrX:153295726..153596478 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153437215-153594094)x3 copy number gain not provided [RCV000848517] ChrX:153437215..153594094 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153255132-153636707)x3 copy number gain not provided [RCV000847428] ChrX:153255132..153636707 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
pathogenic
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 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:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely 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
NM_012253.4(TKTL1):c.23C>T (p.Ala8Val) single nucleotide variant not provided [RCV000959744] ChrX:154295882 [GRCh38]
ChrX:153524235 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
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:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11835 AgrOrtholog
COSMIC TKTL1 COSMIC
Ensembl Genes ENSG00000007350 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358928 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358931 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000399763 UniProtKB/TrEMBL
  ENSP00000401111 UniProtKB/TrEMBL
  ENSP00000416552 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369912 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369915 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000426203 UniProtKB/TrEMBL
  ENST00000426989 UniProtKB/TrEMBL
  ENST00000439635 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000007350 GTEx
HGNC ID HGNC:11835 ENTREZGENE
Human Proteome Map TKTL1 Human Proteome Map
InterPro THDP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketo_C/PFOR_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase-like_Pyr-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8277 UniProtKB/Swiss-Prot
NCBI Gene 8277 ENTREZGENE
OMIM 300044 OMIM
Pfam Transket_pyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36538 PharmGKB
PROSITE TRANSKETOLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Transket_pyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52922 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2ID95_HUMAN UniProtKB/TrEMBL
  A2ID96_HUMAN UniProtKB/TrEMBL
  B7Z7I0 ENTREZGENE, UniProtKB/TrEMBL
  F8WF97_HUMAN UniProtKB/TrEMBL
  H0Y808_HUMAN UniProtKB/TrEMBL
  P51854 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K896 UniProtKB/Swiss-Prot
  F6XD45 UniProtKB/TrEMBL
  Q5TYJ8 UniProtKB/Swiss-Prot
  Q5TYJ9 UniProtKB/Swiss-Prot
  Q8TC75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 TKTL1  transketolase like 1    transketolase-like 1  Symbol and/or name change 5135510 APPROVED