TENM1 (teneurin transmembrane protein 1) - Rat Genome Database

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Gene: TENM1 (teneurin transmembrane protein 1) Homo sapiens
Analyze
Symbol: TENM1
Name: teneurin transmembrane protein 1
RGD ID: 1350445
HGNC Page HGNC
Description: Predicted to have cell adhesion molecule binding activity; protein heterodimerization activity; and protein homodimerization activity. Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; positive regulation of cellular component biogenesis; and positive regulation of protein phosphorylation. Predicted to localize to several cellular components, including Golgi apparatus; nuclear lumen; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: odz (odd Oz/ten-m, Drosophila) homolog 3; odz, odd Oz/ten-m homolog 1; odz, odd Oz/ten-m homolog 1(Drosophila); ODZ1; ODZ3; protein Odd Oz/ten-m homolog 1; ten-1; TEN-M1; TEN1; tenascin M1; tenascin-M1; teneurin 1; teneurin-1; TNM; TNM1
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 EnsemblX124,375,903 - 124,963,817 (-)EnsemblGRCh38hg38GRCh38
GRCh38X124,375,903 - 125,204,381 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X123,509,753 - 124,097,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X123,339,504 - 123,925,347 (-)NCBINCBI36hg18NCBI36
Build 34X123,239,869 - 123,823,201NCBI
CeleraX123,894,317 - 124,482,247 (-)NCBI
Cytogenetic MapXq25NCBI
HuRefX112,890,871 - 113,481,233 (-)NCBIHuRef
CHM1_1X123,420,772 - 124,008,695 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease 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:9771704   PMID:10331952   PMID:10341219   PMID:10556288   PMID:10737800   PMID:12000766   PMID:12477932   PMID:12915301   PMID:14702039   PMID:15146197   PMID:15772651   PMID:15777793  
PMID:16344560   PMID:21651764   PMID:21873635   PMID:22271700   PMID:22610502   PMID:22952603   PMID:23898208   PMID:24058526   PMID:25152333   PMID:25648896   PMID:25666757   PMID:25798074  
PMID:26485751   PMID:26638075   PMID:27040985   PMID:27641332   PMID:28004221   PMID:29449217   PMID:30021884   PMID:31646573  


Genomics

Comparative Map Data
TENM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX124,375,903 - 124,963,817 (-)EnsemblGRCh38hg38GRCh38
GRCh38X124,375,903 - 125,204,381 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X123,509,753 - 124,097,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X123,339,504 - 123,925,347 (-)NCBINCBI36hg18NCBI36
Build 34X123,239,869 - 123,823,201NCBI
CeleraX123,894,317 - 124,482,247 (-)NCBI
Cytogenetic MapXq25NCBI
HuRefX112,890,871 - 113,481,233 (-)NCBIHuRef
CHM1_1X123,420,772 - 124,008,695 (-)NCBICHM1_1
Tenm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X41,616,743 - 42,518,045 (-)NCBIGRCm39mm39
GRCm39 EnsemblX41,616,743 - 42,518,003 (-)Ensembl
GRCm38X42,527,866 - 43,429,168 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX42,527,866 - 43,429,126 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X39,885,568 - 40,627,963 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X38,777,018 - 39,519,413 (-)NCBImm8
CeleraX30,106,289 - 30,816,175 (-)NCBICelera
Cytogenetic MapXA4NCBI
Tenm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X121,400,466 - 122,289,877 (-)NCBI
Rnor_6.0X128,923,951 - 128,951,520 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0X129,034,755 - 129,336,023 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X129,005,588 - 129,870,335 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X1,895,286 - 2,529,211 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX120,513,461 - 120,912,284 (-)NCBICelera
Cytogenetic MapXq35NCBI
Tenm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554739,770,364 - 10,337,379 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554739,557,822 - 10,342,007 (+)NCBIChiLan1.0ChiLan1.0
TENM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X123,743,454 - 124,106,221 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX123,742,330 - 124,333,000 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X113,568,341 - 114,399,131 (-)NCBIMhudiblu_PPA_v0panPan3
TENM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X95,766,173 - 96,565,995 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX95,769,881 - 96,550,190 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX81,834,945 - 82,631,500 (-)NCBI
ROS_Cfam_1.0X97,552,681 - 98,343,304 (-)NCBI
UMICH_Zoey_3.1X94,983,680 - 95,773,782 (-)NCBI
UNSW_CanFamBas_1.0X96,739,997 - 97,530,092 (-)NCBI
UU_Cfam_GSD_1.0X96,529,991 - 97,320,597 (-)NCBI
Tenm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X94,732,645 - 95,513,084 (-)NCBI
SpeTri2.0NW_0049364795,603,944 - 6,254,846 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TENM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX101,856,938 - 102,411,207 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X101,853,340 - 102,641,299 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X116,722,711 - 117,279,311 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TENM1
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Tenm1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247973,146,824 - 3,732,968 (-)NCBI

Position Markers
DXS8057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,576,797 - 123,577,042UniSTSGRCh37
Build 36X123,404,478 - 123,404,723RGDNCBI36
CeleraX123,961,356 - 123,961,601RGD
Cytogenetic Map11q13.4UniSTS
Cytogenetic MapXq25UniSTS
HuRef1167,918,106 - 67,919,256UniSTS
Marshfield Genetic MapX79.19RGD
Marshfield Genetic MapX79.19UniSTS
Genethon Genetic MapX144.2UniSTS
GeneMap99-G3 RH MapX4087.0UniSTS
L77319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,672,267 - 123,672,416UniSTSGRCh37
Build 36X123,499,948 - 123,500,097RGDNCBI36
CeleraX124,056,821 - 124,056,970RGD
Cytogenetic MapXq25UniSTS
HuRefX113,054,463 - 113,054,612UniSTS
G42874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,636,270 - 123,637,228UniSTSGRCh37
Build 36X123,463,951 - 123,464,909RGDNCBI36
CeleraX124,020,808 - 124,021,767RGD
Cytogenetic MapXq25UniSTS
HuRefX113,018,636 - 113,019,595UniSTS
G42877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X124,029,825 - 124,030,405UniSTSGRCh37
Build 36X123,857,506 - 123,858,086RGDNCBI36
CeleraX124,414,402 - 124,414,982RGD
Cytogenetic MapXq25UniSTS
HuRefX113,413,088 - 113,413,668UniSTS
G42880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,818,212 - 123,819,152UniSTSGRCh37
Build 36X123,645,893 - 123,646,833RGDNCBI36
CeleraX124,202,777 - 124,203,719RGD
Cytogenetic MapXq25UniSTS
HuRefX113,200,982 - 113,201,922UniSTS
RH104212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,965,990 - 123,966,128UniSTSGRCh37
Build 36X123,793,671 - 123,793,809RGDNCBI36
CeleraX124,350,565 - 124,350,703RGD
Cytogenetic MapXq25UniSTS
HuRefX113,348,576 - 113,348,714UniSTS
GeneMap99-GB4 RH MapX301.6UniSTS
DXS1315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,626,722 - 123,626,793UniSTSGRCh37
Build 36X123,454,403 - 123,454,474RGDNCBI36
CeleraX124,011,259 - 124,011,330RGD
Cytogenetic MapXq25UniSTS
HuRefX113,009,087 - 113,009,158UniSTS
G66645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X124,031,822 - 124,032,558UniSTSGRCh37
Build 36X123,859,503 - 123,860,239RGDNCBI36
CeleraX124,416,399 - 124,417,135RGD
Cytogenetic MapXq25UniSTS
HuRefX113,415,083 - 113,415,819UniSTS
G66680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,816,513 - 123,817,312UniSTSGRCh37
Build 36X123,644,194 - 123,644,993RGDNCBI36
CeleraX124,201,078 - 124,201,877RGD
Cytogenetic MapXq25UniSTS
HuRefX113,199,283 - 113,200,082UniSTS
stSG26602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,698,778 - 123,698,903UniSTSGRCh37
Build 36X123,526,459 - 123,526,584RGDNCBI36
CeleraX124,083,334 - 124,083,459RGD
Cytogenetic MapXq25UniSTS
HuRefX113,080,787 - 113,080,912UniSTS
stSG38425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,630,940 - 123,631,112UniSTSGRCh37
Build 36X123,458,621 - 123,458,793RGDNCBI36
CeleraX124,015,477 - 124,015,649RGD
Cytogenetic MapXq25UniSTS
HuRefX113,013,305 - 113,013,477UniSTS
G65722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,966,006 - 123,966,234UniSTSGRCh37
Build 36X123,793,687 - 123,793,915RGDNCBI36
CeleraX124,350,581 - 124,350,809RGD
Cytogenetic MapXq25UniSTS
HuRefX113,348,592 - 113,348,820UniSTS
ODZ1_364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,514,309 - 123,514,955UniSTSGRCh37
Build 36X123,341,990 - 123,342,636RGDNCBI36
CeleraX123,898,873 - 123,899,519RGD
DXS7877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,548,358 - 123,548,449UniSTSGRCh37
Build 36X123,376,039 - 123,376,130RGDNCBI36
CeleraX123,932,925 - 123,933,016RGD
Cytogenetic MapXq25UniSTS
HuRefX112,929,604 - 112,929,695UniSTS
Stanford-G3 RH MapX3947.0UniSTS
SHGC-60255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,747,603 - 123,747,706UniSTSGRCh37
Build 36X123,575,284 - 123,575,387RGDNCBI36
CeleraX124,132,164 - 124,132,267RGD
Cytogenetic MapXq25UniSTS
STS-T61382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,510,671 - 123,510,896UniSTSGRCh37
Build 36X123,338,352 - 123,338,577RGDNCBI36
CeleraX123,895,235 - 123,895,460RGD
Cytogenetic MapXq25UniSTS
HuRefX112,891,789 - 112,892,014UniSTS
GeneMap99-GB4 RH MapX299.7UniSTS
NCBI RH MapX611.8UniSTS
L77308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X124,051,791 - 124,051,922UniSTSGRCh37
Build 36X123,879,472 - 123,879,603RGDNCBI36
CeleraX124,436,369 - 124,436,500RGD
Cytogenetic MapXq25UniSTS
HuRefX113,435,055 - 113,435,186UniSTS
L77750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,955,530 - 123,955,630UniSTSGRCh37
Build 36X123,783,211 - 123,783,311RGDNCBI36
CeleraX124,340,104 - 124,340,204RGD
Cytogenetic MapXq25UniSTS
HuRefX113,338,040 - 113,338,140UniSTS
DXS7771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X124,051,656 - 124,051,723UniSTSGRCh37
Build 36X123,879,337 - 123,879,404RGDNCBI36
CeleraX124,436,234 - 124,436,301RGD
Cytogenetic MapXq25UniSTS
HuRefX113,434,920 - 113,434,987UniSTS
RH71468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,745,889 - 123,746,018UniSTSGRCh37
Build 36X123,573,570 - 123,573,699RGDNCBI36
CeleraX124,130,450 - 124,130,579RGD
Cytogenetic MapXq25UniSTS
HuRefX113,127,859 - 113,127,988UniSTS
GeneMap99-GB4 RH MapX301.6UniSTS
DXS7749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,973,186 - 123,973,265UniSTSGRCh37
Build 36X123,800,867 - 123,800,946RGDNCBI36
CeleraX124,357,761 - 124,357,840RGD
Cytogenetic MapXq25UniSTS
HuRefX113,355,772 - 113,355,851UniSTS
DXS7745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,891,804 - 123,891,896UniSTSGRCh37
Build 36X123,719,485 - 123,719,577RGDNCBI36
CeleraX124,276,372 - 124,276,464RGD
Cytogenetic MapXq25UniSTS
HuRefX113,274,327 - 113,274,419UniSTS
A007A29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,511,071 - 123,511,206UniSTSGRCh37
Build 36X123,338,752 - 123,338,887RGDNCBI36
CeleraX123,895,635 - 123,895,770RGD
Cytogenetic MapXq25UniSTS
HuRefX112,892,189 - 112,892,324UniSTS
GeneMap99-GB4 RH MapX299.9UniSTS
AF020119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,799,279 - 123,799,353UniSTSGRCh37
Build 36X123,626,960 - 123,627,034RGDNCBI36
CeleraX124,183,844 - 124,183,918RGD
Cytogenetic MapXq25UniSTS
HuRefX113,182,034 - 113,182,108UniSTS
L77754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,955,544 - 123,955,666UniSTSGRCh37
Build 36X123,783,225 - 123,783,347RGDNCBI36
CeleraX124,340,118 - 124,340,240RGD
Cytogenetic MapXq25UniSTS
HuRefX113,338,054 - 113,338,176UniSTS
DXS7144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,681,249 - 123,681,399UniSTSGRCh37
Build 36X123,508,930 - 123,509,080RGDNCBI36
CeleraX124,065,803 - 124,065,953RGD
Cytogenetic MapXq25UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS8356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,915,651 - 123,915,742UniSTSGRCh37
Build 36X123,743,332 - 123,743,423RGDNCBI36
CeleraX124,300,219 - 124,300,310RGD
Cytogenetic MapXq25UniSTS
HuRefX113,297,994 - 113,298,085UniSTS
TNG Radiation Hybrid MapX21798.0UniSTS
Stanford-G3 RH MapX3739.0UniSTS
NCBI RH MapX682.2UniSTS
DXS1183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,781,531 - 123,781,647UniSTSGRCh37
Build 36X123,609,212 - 123,609,328RGDNCBI36
CeleraX124,166,096 - 124,166,212RGD
Cytogenetic MapXq25UniSTS
HuRefX113,164,144 - 113,164,260UniSTS
G54527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,819,193 - 123,820,127UniSTSGRCh37
CeleraX124,203,760 - 124,204,694UniSTS
Cytogenetic MapXq25UniSTS
HuRefX113,201,963 - 113,202,897UniSTS
G54529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,640,086 - 123,641,083UniSTSGRCh37
CeleraX124,024,626 - 124,025,623UniSTS
Cytogenetic MapXq25UniSTS
HuRefX113,022,454 - 113,023,451UniSTS
G54532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X124,028,477 - 124,029,400UniSTSGRCh37
CeleraX124,413,054 - 124,413,977UniSTS
Cytogenetic MapXq25UniSTS
HuRefX113,411,740 - 113,412,663UniSTS
G54548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,740,781 - 123,741,775UniSTSGRCh37
CeleraX124,125,342 - 124,126,336UniSTS
Cytogenetic MapXq25UniSTS
HuRefX113,122,698 - 113,123,692UniSTS
G54549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,642,416 - 123,643,371UniSTSGRCh37
CeleraX124,026,956 - 124,027,911UniSTS
Cytogenetic MapXq25UniSTS
HuRefX113,024,784 - 113,025,739UniSTS
ODZ1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,554,169 - 123,554,283UniSTSGRCh37
CeleraX123,938,736 - 123,938,850UniSTS
HuRefX112,935,486 - 112,935,600UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6370
Count of miRNA genes:1207
Interacting mature miRNAs:1537
Transcripts:ENST00000371130, ENST00000422452, ENST00000461429
Prediction methods:Microtar, 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 242 6 204 64 31 64 53 242 599 18 94 52 40 10
Low 1681 1921 1315 472 1013 316 3988 1373 2857 271 936 1335 162 1003 2585 1
Below cutoff 396 1051 168 54 419 51 268 570 239 81 321 113 3 161 193 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF100772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI498402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE700315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX457474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX478232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX506934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF454574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN305715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA217223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z81008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z85995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z93018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371130   ⟹   ENSP00000360171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,375,903 - 124,963,817 (-)Ensembl
RefSeq Acc Id: ENST00000422452   ⟹   ENSP00000403954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,375,908 - 124,963,817 (-)Ensembl
RefSeq Acc Id: ENST00000461429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,453,459 - 124,497,143 (-)Ensembl
RefSeq Acc Id: NM_001163278   ⟹   NP_001156750
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 124,963,817 (-)NCBI
GRCh37X123,509,753 - 124,097,666 (-)RGD
CeleraX123,894,317 - 124,482,247 (-)RGD
HuRefX112,890,871 - 113,481,233 (-)RGD
CHM1_1X123,420,772 - 124,008,695 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001163279   ⟹   NP_001156751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 124,963,817 (-)NCBI
GRCh37X123,509,753 - 124,097,666 (-)RGD
CeleraX123,894,317 - 124,482,247 (-)RGD
HuRefX112,890,871 - 113,481,233 (-)RGD
CHM1_1X123,420,772 - 124,008,695 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014253   ⟹   NP_055068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 124,963,817 (-)NCBI
GRCh37X123,509,753 - 124,097,666 (-)RGD
Build 36X123,339,504 - 123,925,347 (-)NCBI Archive
CeleraX123,894,317 - 124,482,247 (-)RGD
HuRefX112,890,871 - 113,481,233 (-)RGD
CHM1_1X123,420,772 - 124,008,695 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531230   ⟹   XP_011529532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 125,204,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531236   ⟹   XP_011529538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 124,565,318 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531237   ⟹   XP_011529539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 124,462,332 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029208   ⟹   XP_016884697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 125,204,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029209   ⟹   XP_016884698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 125,204,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029210   ⟹   XP_016884699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 125,204,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029211   ⟹   XP_016884700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 125,204,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029212   ⟹   XP_016884701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 125,203,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029213   ⟹   XP_016884702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 125,204,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029214   ⟹   XP_016884703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,375,903 - 125,204,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029215   ⟹   XP_016884704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,483,972 - 125,204,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029216   ⟹   XP_016884705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,483,972 - 125,204,381 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001156750   ⟸   NM_001163278
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UKZ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001156751   ⟸   NM_001163279
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9UKZ4 (UniProtKB/Swiss-Prot),   B7ZMH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055068   ⟸   NM_014253
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9UKZ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529538   ⟸   XM_011531236
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529539   ⟸   XM_011531237
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011529532   ⟸   XM_011531230
- Peptide Label: isoform X2
- UniProtKB: Q9UKZ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884699   ⟸   XM_017029210
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884700   ⟸   XM_017029211
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884703   ⟸   XM_017029214
- Peptide Label: isoform X3
- UniProtKB: Q9UKZ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884697   ⟸   XM_017029208
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884698   ⟸   XM_017029209
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884702   ⟸   XM_017029213
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884701   ⟸   XM_017029212
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884705   ⟸   XM_017029216
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016884704   ⟸   XM_017029215
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000360171   ⟸   ENST00000371130
RefSeq Acc Id: ENSP00000403954   ⟸   ENST00000422452
Protein Domains
EGF-like   Teneurin N-terminal

Promoters
RGD ID:13628040
Promoter ID:EPDNEW_H29295
Type:initiation region
Name:TENM1_5
Description:teneurin transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29296  EPDNEW_H29297  EPDNEW_H29298  EPDNEW_H29299  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,963,777 - 124,963,837EPDNEW
RGD ID:13628042
Promoter ID:EPDNEW_H29296
Type:initiation region
Name:TENM1_3
Description:teneurin transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29295  EPDNEW_H29297  EPDNEW_H29298  EPDNEW_H29299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,984,281 - 124,984,341EPDNEW
RGD ID:13628044
Promoter ID:EPDNEW_H29297
Type:multiple initiation site
Name:TENM1_2
Description:teneurin transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29295  EPDNEW_H29296  EPDNEW_H29298  EPDNEW_H29299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X125,155,016 - 125,155,076EPDNEW
RGD ID:13628046
Promoter ID:EPDNEW_H29298
Type:initiation region
Name:TENM1_1
Description:teneurin transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29295  EPDNEW_H29296  EPDNEW_H29297  EPDNEW_H29299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X125,204,312 - 125,204,372EPDNEW
RGD ID:13628048
Promoter ID:EPDNEW_H29299
Type:multiple initiation site
Name:TENM1_4
Description:teneurin transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29295  EPDNEW_H29296  EPDNEW_H29297  EPDNEW_H29298  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X125,213,213 - 125,213,273EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_014253.3(TENM1):c.4083+3982T>A single nucleotide variant Lung cancer [RCV000102272] ChrX:124449355 [GRCh38]
ChrX:123583205 [GRCh37]
ChrX:Xq25
uncertain significance
NM_014253.3(TENM1):c.3445+81T>C single nucleotide variant Lung cancer [RCV000102273] ChrX:124503479 [GRCh38]
ChrX:123637329 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156022206)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)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 Xq25(chrX:124925327-126709707)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051427]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051427]|See cases [RCV000051427] ChrX:124925327..126709707 [GRCh38]
ChrX:124059176..125843690 [GRCh37]
ChrX:123886857..125671371 [NCBI36]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
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 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_014253.3(TENM1):c.130G>A (p.Glu44Lys) single nucleotide variant Malignant melanoma [RCV000063939] ChrX:124963624 [GRCh38]
ChrX:124097473 [GRCh37]
ChrX:123925154 [NCBI36]
ChrX:Xq25
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 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)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq25(chrX:123859097-128717147)x3 copy number gain See cases [RCV000134572] ChrX:123859097..128717147 [GRCh38]
ChrX:122992947..127851125 [GRCh37]
ChrX:122820628..127678806 [NCBI36]
ChrX:Xq25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 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 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 Xq25(chrX:124464328-124702529)x1 copy number loss See cases [RCV000138060] ChrX:124464328..124702529 [GRCh38]
ChrX:123598178..123836379 [GRCh37]
ChrX:123425859..123664060 [NCBI36]
ChrX:Xq25
likely benign
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 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
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 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 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 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 Xq25(chrX:124763163-126519353)x2 copy number gain See cases [RCV000141295] ChrX:124763163..126519353 [GRCh38]
ChrX:123897013..125653336 [GRCh37]
ChrX:123724694..125481017 [NCBI36]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq25(chrX:123828673-127958010)x3 copy number gain See cases [RCV000141805] ChrX:123828673..127958010 [GRCh38]
ChrX:122962523..127091989 [GRCh37]
ChrX:122790204..126919670 [NCBI36]
ChrX:Xq25
uncertain significance
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 Xq25(chrX:124349141-124910482)x3 copy number gain See cases [RCV000142112] ChrX:124349141..124910482 [GRCh38]
ChrX:123482991..124044331 [GRCh37]
ChrX:123310672..123872012 [NCBI36]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 Xq25(chrX:124500665-125015570)x2 copy number gain See cases [RCV000143314] ChrX:124500665..125015570 [GRCh38]
ChrX:123634515..124149419 [GRCh37]
ChrX:123462196..123977100 [NCBI36]
ChrX:Xq25
uncertain significance
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
NC_000023.11:g.125127794T>C single nucleotide variant Lung cancer [RCV000102274] ChrX:125127794 [GRCh38]
ChrX:124261643 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)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 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 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
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 Xq25(chrX:122805421-124676455)x3 copy number gain See cases [RCV000599069] ChrX:122805421..124676455 [GRCh37]
ChrX:Xq25
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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25(chrX:123978526-124168033)x1 copy number loss See cases [RCV000447690] ChrX:123978526..124168033 [GRCh37]
ChrX:Xq25
likely benign
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX: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 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 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_014253.3(TENM1):c.3143C>T (p.Thr1048Met) single nucleotide variant not provided [RCV000678280] ChrX:124520675 [GRCh38]
ChrX:123654525 [GRCh37]
ChrX:Xq25
uncertain significance
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 Xq25(chrX:123811061-124108028)x2 copy number gain not provided [RCV000684385] ChrX:123811061..124108028 [GRCh37]
ChrX:Xq25
uncertain significance
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 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
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)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_014253.3(TENM1):c.7959C>T (p.Arg2653=) single nucleotide variant not provided [RCV000968443] ChrX:124380755 [GRCh38]
ChrX:123514605 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.6554A>T (p.His2185Leu) single nucleotide variant not provided [RCV000971094] ChrX:124384356 [GRCh38]
ChrX:123518206 [GRCh37]
ChrX:Xq25
likely benign
NM_014253.3(TENM1):c.996G>A (p.Leu332=) single nucleotide variant not provided [RCV000971095] ChrX:124705032 [GRCh38]
ChrX:123838882 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.3177A>G (p.Thr1059=) single nucleotide variant not provided [RCV000948161] ChrX:124520641 [GRCh38]
ChrX:123654491 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.327A>G (p.Thr109=) single nucleotide variant not provided [RCV000948162] ChrX:124896132 [GRCh38]
ChrX:124029981 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.4308C>T (p.Ser1436=) single nucleotide variant not provided [RCV000927757] ChrX:124422414 [GRCh38]
ChrX:123556264 [GRCh37]
ChrX:Xq25
likely benign
NM_014253.3(TENM1):c.5328G>A (p.Glu1776=) single nucleotide variant not provided [RCV000950881] ChrX:124405073 [GRCh38]
ChrX:123538923 [GRCh37]
ChrX:Xq25
benign
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_014253.3(TENM1):c.3655A>G (p.Ile1219Val) single nucleotide variant not provided [RCV000965527] ChrX:124497056 [GRCh38]
ChrX:123630906 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.1218A>G (p.Ala406=) single nucleotide variant not provided [RCV000965528] ChrX:124653734 [GRCh38]
ChrX:123787584 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.5349G>A (p.Ser1783=) single nucleotide variant not provided [RCV000892844] ChrX:124405052 [GRCh38]
ChrX:123538902 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.6702G>A (p.Leu2234=) single nucleotide variant not provided [RCV000906201] ChrX:124384208 [GRCh38]
ChrX:123518058 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.4935C>T (p.Asn1645=) single nucleotide variant not provided [RCV000967613] ChrX:124420337 [GRCh38]
ChrX:123554187 [GRCh37]
ChrX:Xq25
benign
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 Xq25(chrX:123688200-123806149)x3 copy number gain not provided [RCV000849545] ChrX:123688200..123806149 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_014253.3(TENM1):c.4791G>A (p.Pro1597=) single nucleotide variant not provided [RCV000898033] ChrX:124420481 [GRCh38]
ChrX:123554331 [GRCh37]
ChrX:Xq25
benign
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
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 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_014253.3(TENM1):c.3666G>A (p.Ser1222=) single nucleotide variant not provided [RCV000896448] ChrX:124497045 [GRCh38]
ChrX:123630895 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.5493G>A (p.Leu1831=) single nucleotide variant not provided [RCV000909048] ChrX:124392226 [GRCh38]
ChrX:123526076 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.4630C>T (p.Leu1544=) single nucleotide variant not provided [RCV000940403] ChrX:124420642 [GRCh38]
ChrX:123554492 [GRCh37]
ChrX:Xq25
likely benign
NM_014253.3(TENM1):c.867G>A (p.Ser289=) single nucleotide variant not provided [RCV000908493] ChrX:124705161 [GRCh38]
ChrX:123839011 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.520G>A (p.Ala174Thr) single nucleotide variant not provided [RCV000909342] ChrX:124894311 [GRCh38]
ChrX:124028160 [GRCh37]
ChrX:Xq25
likely benign
NM_014253.3(TENM1):c.3052C>T (p.Pro1018Ser) single nucleotide variant not provided [RCV000885568] ChrX:124520766 [GRCh38]
ChrX:123654616 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.3363C>G (p.Val1121=) single nucleotide variant not provided [RCV000978516] ChrX:124503642 [GRCh38]
ChrX:123637492 [GRCh37]
ChrX:Xq25
likely benign
NM_014253.3(TENM1):c.6734C>G (p.Thr2245Ser) single nucleotide variant not provided [RCV000895547] ChrX:124384176 [GRCh38]
ChrX:123518026 [GRCh37]
ChrX:Xq25
benign
NM_014253.3(TENM1):c.1788_1792del (p.Cys596_Asp598delinsTer) deletion not provided [RCV001249448] ChrX:124645227..124645231 [GRCh38]
ChrX:123779077..123779081 [GRCh37]
ChrX:Xq25
not provided
NM_014253.3(TENM1):c.4113A>C (p.Ala1371=) single nucleotide variant not provided [RCV000890424] ChrX:124422609 [GRCh38]
ChrX:123556459 [GRCh37]
ChrX:Xq25
benign
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely 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 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
NM_014253.3(TENM1):c.4853T>G (p.Leu1618Arg) single nucleotide variant Moyamoya angiopathy [RCV001261787] ChrX:124420419 [GRCh38]
ChrX:123554269 [GRCh37]
ChrX:Xq25
likely pathogenic
NM_014253.3(TENM1):c.2620G>C (p.Val874Leu) single nucleotide variant not provided [RCV001313811] ChrX:124546905 [GRCh38]
ChrX:123680755 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8117 AgrOrtholog
COSMIC TENM1 COSMIC
Ensembl Genes ENSG00000009694 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000360171 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403954 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371130 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000422452 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000009694 GTEx
HGNC ID HGNC:8117 ENTREZGENE
Human Proteome Map TENM1 Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPR006530 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ten_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tox-GHH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10178 UniProtKB/Swiss-Prot
NCBI Gene 10178 ENTREZGENE
OMIM 300588 OMIM
Pfam Ten_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tox-GHH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31904 PharmGKB
PROSITE EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TENEURIN_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs YD_repeat_2x UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZMH4 ENTREZGENE, UniProtKB/TrEMBL
  Q9UKZ4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RTR5 UniProtKB/Swiss-Prot
  Q5JZ17 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-10-09 TENM1  teneurin transmembrane protein 1  ODZ1  odz, odd Oz/ten-m homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-07-27 ODZ1  odz, odd Oz/ten-m homolog 1 (Drosophila)  ODZ1  odz, odd Oz/ten-m homolog 1(Drosophila)  Symbol and/or name change 5135510 APPROVED