TSPAN7 (tetraspanin 7) - Rat Genome Database

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Gene: TSPAN7 (tetraspanin 7) Homo sapiens
Analyze
Symbol: TSPAN7
Name: tetraspanin 7
RGD ID: 1352570
HGNC Page HGNC
Description: Predicted to be involved in viral process. Predicted to localize to integral component of plasma membrane. Implicated in non-syndromic X-linked intellectual disability 58.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A15; CCG-B7; CD231; CD231 antigen; cell surface glycoprotein A15; DXS1692E; membrane component chromosome X surface marker 1; membrane component, X chromosome, surface marker 1; mental retardation, X-linked 58; MRX58; MXS1; T-cell acute lymphoblastic leukemia associated antigen 1; T-cell acute lymphoblastic leukemia-associated antigen 1; TALLA-1; tetraspanin protein; tetraspanin-7; TM4SF2; TM4SF2b; transmembrane 4 superfamily 2b; transmembrane 4 superfamily member 2; transmembrane protein A15; tspan-7
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 EnsemblX38,561,370 - 38,688,920 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX38,561,542 - 38,688,920 (+)EnsemblGRCh38hg38GRCh38
GRCh38X38,561,542 - 38,688,918 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,420,795 - 38,548,172 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,305,683 - 38,433,116 (+)NCBINCBI36hg18NCBI36
Build 34X38,176,955 - 38,304,388NCBI
CeleraX42,558,371 - 42,685,804 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX36,165,283 - 36,292,541 (+)NCBIHuRef
CHM1_1X38,451,822 - 38,579,246 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
antimony(0)  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
cadmium sulfate  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (EXP,ISO)
glucose  (ISO)
hydrogen peroxide  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lead(II) chloride  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
ozone  (ISO)
paracetamol  (ISO)
potassium dichromate  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
triptonide  (ISO)
urethane  (ISO)
valproic acid  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:7768645   PMID:8168850   PMID:8325628   PMID:8420826   PMID:10229664   PMID:10449641   PMID:10617319   PMID:10655063   PMID:11161835   PMID:11387256   PMID:11739647   PMID:12070254  
PMID:12477932   PMID:12777533   PMID:14735593   PMID:15489334   PMID:16169070   PMID:17353931   PMID:17989173   PMID:18000879   PMID:19339915   PMID:19535787   PMID:19736351   PMID:19894777  
PMID:20479760   PMID:20630051   PMID:20850477   PMID:20951001   PMID:21078624   PMID:21516116   PMID:21873635   PMID:22213152   PMID:22445342   PMID:23284715   PMID:24623722   PMID:25275127  
PMID:25637218   PMID:26350204   PMID:26439863   PMID:26830877   PMID:28223337   PMID:28298427   PMID:28514442   PMID:28620031   PMID:32181159   PMID:32296183   PMID:32314012   PMID:32468130  


Genomics

Comparative Map Data
TSPAN7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX38,561,370 - 38,688,920 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX38,561,542 - 38,688,920 (+)EnsemblGRCh38hg38GRCh38
GRCh38X38,561,542 - 38,688,918 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,420,795 - 38,548,172 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,305,683 - 38,433,116 (+)NCBINCBI36hg18NCBI36
Build 34X38,176,955 - 38,304,388NCBI
CeleraX42,558,371 - 42,685,804 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX36,165,283 - 36,292,541 (+)NCBIHuRef
CHM1_1X38,451,822 - 38,579,246 (+)NCBICHM1_1
Tspan7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X10,351,355 - 10,462,843 (+)NCBIGRCm39mm39
GRCm39 EnsemblX10,351,397 - 10,462,844 (+)Ensembl
GRCm38X10,485,116 - 10,596,604 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX10,485,158 - 10,596,605 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X10,062,242 - 10,173,730 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X9,642,075 - 9,753,563 (+)NCBImm8
CeleraX8,190,531 - 8,300,146 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
Tspan7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X12,208,783 - 12,306,160 (-)NCBI
Rnor_6.0 EnsemblX13,261,558 - 13,279,099 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X13,261,551 - 13,282,886 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X14,051,176 - 14,071,673 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X24,362,332 - 24,383,176 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX12,822,161 - 12,919,359 (-)NCBICelera
Cytogenetic MapXq12NCBI
Tspan7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495556675,576 - 203,512 (+)NCBIChiLan1.0ChiLan1.0
TSPAN7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X38,818,523 - 38,841,328 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX38,714,162 - 38,841,328 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X31,006,297 - 31,133,856 (+)NCBIMhudiblu_PPA_v0panPan3
TSPAN7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X33,336,821 - 33,465,097 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX33,336,846 - 33,464,163 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX20,686,033 - 20,814,156 (+)NCBI
ROS_Cfam_1.0X33,386,892 - 33,515,069 (+)NCBI
UMICH_Zoey_3.1X33,465,894 - 33,593,915 (+)NCBI
UNSW_CanFamBas_1.0X33,437,798 - 33,565,917 (+)NCBI
UU_Cfam_GSD_1.0X33,479,723 - 33,608,321 (+)NCBI
Tspan7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X25,575,743 - 25,698,159 (+)NCBI
SpeTri2.0NW_0049365025,416,454 - 5,538,870 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSPAN7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X34,522,899 - 34,660,216 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X38,595,834 - 38,624,148 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TSPAN7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X35,711,603 - 35,829,385 (+)NCBI
ChlSab1.1 EnsemblX35,711,601 - 35,829,681 (+)Ensembl
Tspan7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476216,767,493 - 16,911,713 (-)NCBI

Position Markers
DXS989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X23,184,442 - 23,184,632UniSTSGRCh37
Build 36X23,094,363 - 23,094,553RGDNCBI36
CeleraX27,306,124 - 27,306,314RGD
Cytogenetic MapXp22-p21UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic MapXp11.4UniSTS
HuRefX20,925,457 - 20,925,645UniSTS
Marshfield Genetic MapX29.76RGD
Marshfield Genetic MapX29.76UniSTS
Genethon Genetic MapX40.6UniSTS
deCODE Assembly MapX40.21UniSTS
GeneMap99-GB4 RH MapX97.2UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
DXS8345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,547,402 - 38,547,737UniSTSGRCh37
Build 36X38,432,346 - 38,432,681RGDNCBI36
CeleraX42,685,034 - 42,685,369RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,291,771 - 36,292,106UniSTS
GeneMap99-GB4 RH MapX115.67UniSTS
Whitehead-RH MapX41.8UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX131.5UniSTS
AL023948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,456,373 - 38,456,511UniSTSGRCh37
Build 36X38,341,317 - 38,341,455RGDNCBI36
CeleraX42,594,013 - 42,594,151RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,201,240 - 36,201,378UniSTS
DXS1111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,028,377 - 68,028,503UniSTSGRCh37
Build 36X67,945,102 - 67,945,228RGDNCBI36
CeleraX68,381,303 - 68,381,429RGD
Cytogenetic MapXp11.4UniSTS
HuRefX61,854,301 - 61,854,425UniSTS
DXS1692E.1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,525,393 - 38,525,555UniSTSGRCh37
Build 36X38,410,337 - 38,410,499RGDNCBI36
CeleraX42,663,024 - 42,663,186RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,269,879 - 36,270,041UniSTS
DXS1409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,443,080 - 38,443,140UniSTSGRCh37
Build 36X38,328,024 - 38,328,084RGDNCBI36
CeleraX42,580,720 - 42,580,780RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,188,059 - 36,188,119UniSTS
RH118630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,441,002 - 38,441,321UniSTSGRCh37
Build 36X38,325,946 - 38,326,265RGDNCBI36
CeleraX42,578,642 - 42,578,961RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,185,981 - 36,186,300UniSTS
TM4SF2_281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,547,278 - 38,548,172UniSTSGRCh37
Build 36X38,432,222 - 38,433,116RGDNCBI36
CeleraX42,684,910 - 42,685,804RGD
HuRefX36,291,647 - 36,292,541UniSTS
RH46534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,531,320 - 38,531,422UniSTSGRCh37
Build 36X38,416,264 - 38,416,366RGDNCBI36
CeleraX42,668,951 - 42,669,053RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,275,804 - 36,275,906UniSTS
GeneMap99-GB4 RH MapX112.8UniSTS
AL023926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,481,154 - 38,481,334UniSTSGRCh37
Build 36X38,366,098 - 38,366,278RGDNCBI36
CeleraX42,618,794 - 42,618,974RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,225,754 - 36,225,934UniSTS
RH68281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,547,808 - 38,548,015UniSTSGRCh37
Build 36X38,432,752 - 38,432,959RGDNCBI36
CeleraX42,685,440 - 42,685,647RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,292,177 - 36,292,384UniSTS
GeneMap99-GB4 RH MapX116.74UniSTS
NCBI RH MapX121.2UniSTS
RH17362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,547,703 - 38,547,898UniSTSGRCh37
Build 36X38,432,647 - 38,432,842RGDNCBI36
CeleraX42,685,335 - 42,685,530RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,292,072 - 36,292,267UniSTS
GeneMap99-GB4 RH MapX116.74UniSTS
NCBI RH MapX121.2UniSTS
AB047628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,548,039 - 38,548,138UniSTSGRCh37
Build 36X38,432,983 - 38,433,082RGDNCBI36
CeleraX42,685,671 - 42,685,770RGD
HuRefX36,292,408 - 36,292,507UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3886
Count of miRNA genes:1149
Interacting mature miRNAs:1424
Transcripts:ENST00000286824, ENST00000378482, ENST00000419600, ENST00000422612, ENST00000471410, ENST00000475216, ENST00000480976, ENST00000488893, ENST00000494037, ENST00000545599
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5
Medium 2132 1860 1381 277 504 148 3900 1891 3642 303 891 1419 133 1204 2624 1
Low 243 876 328 339 706 308 438 283 47 78 513 97 36 1 164 3 1
Below cutoff 39 246 13 7 462 8 9 14 28 22 35 53 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA757687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB062057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF241726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF241727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D29808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB475293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000286824   ⟹   ENSP00000286824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,561,544 - 38,688,397 (+)Ensembl
RefSeq Acc Id: ENST00000378482   ⟹   ENSP00000367743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,561,370 - 38,688,913 (+)Ensembl
RefSeq Acc Id: ENST00000419600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,666,096 - 38,688,920 (+)Ensembl
RefSeq Acc Id: ENST00000471410   ⟹   ENSP00000419290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,561,542 - 38,688,168 (+)Ensembl
RefSeq Acc Id: ENST00000475216   ⟹   ENSP00000418586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,561,544 - 38,688,271 (+)Ensembl
RefSeq Acc Id: ENST00000480976   ⟹   ENSP00000419321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,561,544 - 38,674,265 (+)Ensembl
RefSeq Acc Id: ENST00000488893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,570,683 - 38,675,816 (+)Ensembl
RefSeq Acc Id: ENST00000494037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,612,322 - 38,671,416 (+)Ensembl
RefSeq Acc Id: NM_004615   ⟹   NP_004606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,561,542 - 38,688,918 (+)NCBI
GRCh37X38,420,731 - 38,548,172 (+)ENTREZGENE
GRCh37X38,420,731 - 38,548,172 (+)NCBI
Build 36X38,305,683 - 38,433,116 (+)NCBI Archive
HuRefX36,165,283 - 36,292,541 (+)ENTREZGENE
CHM1_1X38,451,822 - 38,579,246 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004606 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH18036 (Get FASTA)   NCBI Sequence Viewer  
  BAA01501 (Get FASTA)   NCBI Sequence Viewer  
  BAA06191 (Get FASTA)   NCBI Sequence Viewer  
  BAB55824 (Get FASTA)   NCBI Sequence Viewer  
  BAB55825 (Get FASTA)   NCBI Sequence Viewer  
  BAC80900 (Get FASTA)   NCBI Sequence Viewer  
  BAC80901 (Get FASTA)   NCBI Sequence Viewer  
  BAC80902 (Get FASTA)   NCBI Sequence Viewer  
  BAC80903 (Get FASTA)   NCBI Sequence Viewer  
  BAC80904 (Get FASTA)   NCBI Sequence Viewer  
  BAC80905 (Get FASTA)   NCBI Sequence Viewer  
  BAC80906 (Get FASTA)   NCBI Sequence Viewer  
  BAC80907 (Get FASTA)   NCBI Sequence Viewer  
  BAC80908 (Get FASTA)   NCBI Sequence Viewer  
  BAC80909 (Get FASTA)   NCBI Sequence Viewer  
  BAC80910 (Get FASTA)   NCBI Sequence Viewer  
  BAC80911 (Get FASTA)   NCBI Sequence Viewer  
  BAC80912 (Get FASTA)   NCBI Sequence Viewer  
  BAC80913 (Get FASTA)   NCBI Sequence Viewer  
  BAC80914 (Get FASTA)   NCBI Sequence Viewer  
  BAC80915 (Get FASTA)   NCBI Sequence Viewer  
  BAC80916 (Get FASTA)   NCBI Sequence Viewer  
  BAC80917 (Get FASTA)   NCBI Sequence Viewer  
  BAC80918 (Get FASTA)   NCBI Sequence Viewer  
  BAC80919 (Get FASTA)   NCBI Sequence Viewer  
  BAC80930 (Get FASTA)   NCBI Sequence Viewer  
  BAC80931 (Get FASTA)   NCBI Sequence Viewer  
  BAC80932 (Get FASTA)   NCBI Sequence Viewer  
  BAC80933 (Get FASTA)   NCBI Sequence Viewer  
  BAC80934 (Get FASTA)   NCBI Sequence Viewer  
  BAC80935 (Get FASTA)   NCBI Sequence Viewer  
  BAC80936 (Get FASTA)   NCBI Sequence Viewer  
  BAC80937 (Get FASTA)   NCBI Sequence Viewer  
  BAC80938 (Get FASTA)   NCBI Sequence Viewer  
  BAC80939 (Get FASTA)   NCBI Sequence Viewer  
  BAC80940 (Get FASTA)   NCBI Sequence Viewer  
  BAC80941 (Get FASTA)   NCBI Sequence Viewer  
  BAC80942 (Get FASTA)   NCBI Sequence Viewer  
  BAC80943 (Get FASTA)   NCBI Sequence Viewer  
  BAC80944 (Get FASTA)   NCBI Sequence Viewer  
  BAC80945 (Get FASTA)   NCBI Sequence Viewer  
  BAC80946 (Get FASTA)   NCBI Sequence Viewer  
  BAC80947 (Get FASTA)   NCBI Sequence Viewer  
  BAC80948 (Get FASTA)   NCBI Sequence Viewer  
  BAC80949 (Get FASTA)   NCBI Sequence Viewer  
  BAC80960 (Get FASTA)   NCBI Sequence Viewer  
  BAC80961 (Get FASTA)   NCBI Sequence Viewer  
  BAC80962 (Get FASTA)   NCBI Sequence Viewer  
  BAC80963 (Get FASTA)   NCBI Sequence Viewer  
  BAC80964 (Get FASTA)   NCBI Sequence Viewer  
  BAC80965 (Get FASTA)   NCBI Sequence Viewer  
  BAC80966 (Get FASTA)   NCBI Sequence Viewer  
  BAC80967 (Get FASTA)   NCBI Sequence Viewer  
  BAC80968 (Get FASTA)   NCBI Sequence Viewer  
  BAC80969 (Get FASTA)   NCBI Sequence Viewer  
  BAC80970 (Get FASTA)   NCBI Sequence Viewer  
  BAC80971 (Get FASTA)   NCBI Sequence Viewer  
  BAC80972 (Get FASTA)   NCBI Sequence Viewer  
  BAC80973 (Get FASTA)   NCBI Sequence Viewer  
  BAC80974 (Get FASTA)   NCBI Sequence Viewer  
  BAC80975 (Get FASTA)   NCBI Sequence Viewer  
  BAC80976 (Get FASTA)   NCBI Sequence Viewer  
  BAC80977 (Get FASTA)   NCBI Sequence Viewer  
  BAC80978 (Get FASTA)   NCBI Sequence Viewer  
  BAC80979 (Get FASTA)   NCBI Sequence Viewer  
  BAC80990 (Get FASTA)   NCBI Sequence Viewer  
  BAC80991 (Get FASTA)   NCBI Sequence Viewer  
  BAC80992 (Get FASTA)   NCBI Sequence Viewer  
  BAC80993 (Get FASTA)   NCBI Sequence Viewer  
  BAC80994 (Get FASTA)   NCBI Sequence Viewer  
  BAC80995 (Get FASTA)   NCBI Sequence Viewer  
  BAC80996 (Get FASTA)   NCBI Sequence Viewer  
  BAC80997 (Get FASTA)   NCBI Sequence Viewer  
  BAC80998 (Get FASTA)   NCBI Sequence Viewer  
  BAC80999 (Get FASTA)   NCBI Sequence Viewer  
  BAC81000 (Get FASTA)   NCBI Sequence Viewer  
  BAC81001 (Get FASTA)   NCBI Sequence Viewer  
  BAC81002 (Get FASTA)   NCBI Sequence Viewer  
  BAC81003 (Get FASTA)   NCBI Sequence Viewer  
  BAC81004 (Get FASTA)   NCBI Sequence Viewer  
  BAC81005 (Get FASTA)   NCBI Sequence Viewer  
  BAC81006 (Get FASTA)   NCBI Sequence Viewer  
  BAC81007 (Get FASTA)   NCBI Sequence Viewer  
  BAC81008 (Get FASTA)   NCBI Sequence Viewer  
  BAC81009 (Get FASTA)   NCBI Sequence Viewer  
  BAC81134 (Get FASTA)   NCBI Sequence Viewer  
  BAG35264 (Get FASTA)   NCBI Sequence Viewer  
  BAG56721 (Get FASTA)   NCBI Sequence Viewer  
  BAG57016 (Get FASTA)   NCBI Sequence Viewer  
  BAG57029 (Get FASTA)   NCBI Sequence Viewer  
  CAB65594 (Get FASTA)   NCBI Sequence Viewer  
  EAW59437 (Get FASTA)   NCBI Sequence Viewer  
  EAW59438 (Get FASTA)   NCBI Sequence Viewer  
  P41732 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_004606   ⟸   NM_004615
- UniProtKB: P41732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000419321   ⟸   ENST00000480976
RefSeq Acc Id: ENSP00000367743   ⟸   ENST00000378482
RefSeq Acc Id: ENSP00000286824   ⟸   ENST00000286824
RefSeq Acc Id: ENSP00000419290   ⟸   ENST00000471410
RefSeq Acc Id: ENSP00000418586   ⟸   ENST00000475216

Promoters
RGD ID:6809341
Promoter ID:HG_KWN:66433
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000378482
Position:
Human AssemblyChrPosition (strand)Source
Build 36X38,305,216 - 38,305,716 (+)MPROMDB
RGD ID:6851554
Promoter ID:EP73578
Type:multiple initiation site
Name:HS_TM4SF2
Description:Transmembrane 4 superfamily member 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X38,305,741 - 38,305,801EPD
RGD ID:6809342
Promoter ID:HG_KWN:66434
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000060653
Position:
Human AssemblyChrPosition (strand)Source
Build 36X38,313,876 - 38,314,376 (+)MPROMDB
RGD ID:6813852
Promoter ID:HG_ACW:83689
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:TSPAN7.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X38,355,526 - 38,356,026 (+)MPROMDB
RGD ID:6809344
Promoter ID:HG_KWN:66435
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:UC004DEH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X38,409,576 - 38,410,076 (+)MPROMDB
RGD ID:13605052
Promoter ID:EPDNEW_H28710
Type:initiation region
Name:TSPAN7_3
Description:tetraspanin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28711  EPDNEW_H28712  EPDNEW_H28713  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,561,374 - 38,561,434EPDNEW
RGD ID:13605054
Promoter ID:EPDNEW_H28711
Type:initiation region
Name:TSPAN7_1
Description:tetraspanin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28710  EPDNEW_H28712  EPDNEW_H28713  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,561,544 - 38,561,604EPDNEW
RGD ID:13605056
Promoter ID:EPDNEW_H28712
Type:initiation region
Name:TSPAN7_4
Description:tetraspanin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28710  EPDNEW_H28711  EPDNEW_H28713  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,612,598 - 38,612,658EPDNEW
RGD ID:13605058
Promoter ID:EPDNEW_H28713
Type:initiation region
Name:TSPAN7_2
Description:tetraspanin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28710  EPDNEW_H28711  EPDNEW_H28712  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,674,246 - 38,674,306EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004615.3(TSPAN7):c.652G>T (p.Gly218Ter) single nucleotide variant Mental retardation 58, X-linked [RCV000012395] ChrX:38681258 [GRCh38]
ChrX:38540512 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) single nucleotide variant History of neurodevelopmental disorder [RCV000721059]|Mental retardation 58, X-linked [RCV000012396]|not provided [RCV000904077] ChrX:38675778 [GRCh38]
ChrX:38535032 [GRCh37]
ChrX:Xp11.4
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
TSPAN7, 2-BP DEL, 564GT deletion Mental retardation 58, X-linked [RCV000012397] ChrX:Xq11 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.4(chrX:38631752-38769503)x2 copy number gain See cases [RCV000054164] ChrX:38631752..38769503 [GRCh38]
ChrX:38491005..38628756 [GRCh37]
ChrX:38375949..38513700 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_004615.3(TSPAN7):c.-15_-13delCCG microsatellite not specified [RCV000081161] ChrX:38561513..38561515 [GRCh38]
ChrX:38420766..38420768 [GRCh37]
ChrX:Xp11.4
benign
NM_004615.3(TSPAN7):c.237T>C (p.Ala79=) single nucleotide variant History of neurodevelopmental disorder [RCV000720976]|not provided [RCV000756829]|not specified [RCV000118716] ChrX:38666276 [GRCh38]
ChrX:38525530 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_004615.3(TSPAN7):c.441C>T (p.Ser147=) single nucleotide variant History of neurodevelopmental disorder [RCV000720951]|not specified [RCV000118717] ChrX:38674316 [GRCh38]
ChrX:38533570 [GRCh37]
ChrX:Xp11.4
benign|likely benign
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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4(chrX:38485991-38626762)x3 copy number gain See cases [RCV000184070] ChrX:38485991..38626762 [GRCh37]
ChrX:Xp11.4
uncertain significance
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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:38631752-38769503)x3 copy number gain See cases [RCV000054165] ChrX:38631752..38769503 [GRCh38]
ChrX:38491005..38628756 [GRCh37]
ChrX:38375949..38513700 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp11.4(chrX:38629338-38685970)x3 copy number gain See cases [RCV000134733] ChrX:38629338..38685970 [GRCh38]
ChrX:38488591..38545224 [GRCh37]
ChrX:38373535..38430168 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.4(chrX:38629364-38688697)x2 copy number gain See cases [RCV000137228] ChrX:38629364..38688697 [GRCh38]
ChrX:38488617..38547951 [GRCh37]
ChrX:38373561..38432895 [NCBI36]
ChrX:Xp11.4
benign
GRCh38/hg38 Xp11.4(chrX:38629364-38688697)x3 copy number gain See cases [RCV000137229] ChrX:38629364..38688697 [GRCh38]
ChrX:38488617..38547951 [GRCh37]
ChrX:38373561..38432895 [NCBI36]
ChrX:Xp11.4
benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp11.4(chrX:38629338-38688706)x3 copy number gain See cases [RCV000138827] ChrX:38629338..38688706 [GRCh38]
ChrX:38488591..38547960 [GRCh37]
ChrX:38373535..38432904 [NCBI36]
ChrX:Xp11.4
likely benign
GRCh38/hg38 Xp11.4(chrX:38632286-38698281)x0 copy number loss See cases [RCV000138871] ChrX:38632286..38698281 [GRCh38]
ChrX:38491539..38557535 [GRCh37]
ChrX:38376483..38442479 [NCBI36]
ChrX:Xp11.4
likely 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 Xp11.4(chrX:38629364-38769503)x3 copy number gain See cases [RCV000138523] ChrX:38629364..38769503 [GRCh38]
ChrX:38488617..38628756 [GRCh37]
ChrX:38373561..38513700 [NCBI36]
ChrX:Xp11.4
conflicting data from submitters
GRCh38/hg38 Xp11.4(chrX:38629364-38769503)x2 copy number gain See cases [RCV000138524] ChrX:38629364..38769503 [GRCh38]
ChrX:38488617..38628756 [GRCh37]
ChrX:38373561..38513700 [NCBI36]
ChrX:Xp11.4
uncertain significance|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp11.4(chrX:38627546-38769304)x2 copy number gain See cases [RCV000141868] ChrX:38627546..38769304 [GRCh38]
ChrX:38486799..38628557 [GRCh37]
ChrX:38371743..38513501 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.4(chrX:38620826-38775361)x3 copy number gain See cases [RCV000142282] ChrX:38620826..38775361 [GRCh38]
ChrX:38480079..38634614 [GRCh37]
ChrX:38365023..38519558 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp11.4(chrX:38627546-38769303)x2 copy number gain See cases [RCV000143367] ChrX:38627546..38769303 [GRCh38]
ChrX:38486799..38628556 [GRCh37]
ChrX:38371743..38513500 [NCBI36]
ChrX:Xp11.4
uncertain significance|conflicting data from submitters
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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.4(chrX:38617950-38775361)x3 copy number gain See cases [RCV000143776] ChrX:38617950..38775361 [GRCh38]
ChrX:38477203..38634614 [GRCh37]
ChrX:38362147..38519558 [NCBI36]
ChrX:Xp11.4
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004615.3(TSPAN7):c.270+7A>G single nucleotide variant not specified [RCV000192824] ChrX:38666316 [GRCh38]
ChrX:38525570 [GRCh37]
ChrX:Xp11.4
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 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp11.4(chrX:38490844-38624791)x3 copy number gain Premature ovarian failure [RCV000225316] ChrX:38490844..38624791 [GRCh37]
ChrX:Xp11.4
benign
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 Xp11.4(chrX:38422882-38957351)x2 copy number gain See cases [RCV000240350] ChrX:38422882..38957351 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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 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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp11.4(chrX:38135974-38957292)x1 copy number loss See cases [RCV000447940] ChrX:38135974..38957292 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4(chrX:38480090-38639494)x3 copy number gain See cases [RCV000512140] ChrX:38480090..38639494 [GRCh37]
ChrX:Xp11.4
likely benign
NM_004615.3(TSPAN7):c.416G>A (p.Arg139Gln) single nucleotide variant not specified [RCV000501003] ChrX:38674291 [GRCh38]
ChrX:38533545 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp11.4(chrX:38486799-38629433)x2 copy number gain See cases [RCV000510628] ChrX:38486799..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2 copy number gain See cases [RCV000510479] ChrX:37584811..38467647 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
NM_004615.3(TSPAN7):c.274G>T (p.Ala92Ser) single nucleotide variant not specified [RCV000504051] ChrX:38671379 [GRCh38]
ChrX:38530633 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp11.4(chrX:38486618-38634614)x2 copy number gain See cases [RCV000510287] ChrX:38486618..38634614 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004615.3(TSPAN7):c.190G>A (p.Gly64Arg) single nucleotide variant Intellectual disability [RCV001252383]|not specified [RCV000502587] ChrX:38666229 [GRCh38]
ChrX:38525483 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_004615.3(TSPAN7):c.78C>T (p.Phe26=) single nucleotide variant not specified [RCV000500494] ChrX:38561624 [GRCh38]
ChrX:38420877 [GRCh37]
ChrX:Xp11.4
uncertain significance
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 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp11.4(chrX:38486618-38634614)x3 copy number gain See cases [RCV000511746] ChrX:38486618..38634614 [GRCh37]
ChrX:Xp11.4
uncertain significance
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 Xp11.4(chrX:38486619-38628557)x3 copy number gain See cases [RCV000511811] ChrX:38486619..38628557 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp11.4(chrX:38480079-38634706)x3 copy number gain See cases [RCV000511127] ChrX:38480079..38634706 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38486799-38634614)x3 copy number gain See cases [RCV000511135] ChrX:38486799..38634614 [GRCh37]
ChrX:Xp11.4
conflicting data from submitters
GRCh37/hg19 Xp11.4(chrX:38486799-38628556)x3 copy number gain See cases [RCV000511257] ChrX:38486799..38628556 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38480090-38628557)x2 copy number gain See cases [RCV000511182] ChrX:38480090..38628557 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4(chrX:38491539-38628756)x2 copy number gain not provided [RCV000585036] ChrX:38491539..38628756 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp11.4(chrX:38486799-38634705)x3 copy number gain See cases [RCV000512196] ChrX:38486799..38634705 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3 copy number gain See cases [RCV000512510] ChrX:38480090..38634614 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp11.4(chrX:38480079-38634614)x2 copy number gain See cases [RCV000512209] ChrX:38480079..38634614 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.4(chrX:38486799-38634614)x2 copy number gain See cases [RCV000512292] ChrX:38486799..38634614 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38486799-38634706)x3 copy number gain See cases [RCV000512543] ChrX:38486799..38634706 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4(chrX:38486922-38628467)x2 copy number gain not provided [RCV000753513] ChrX:38486922..38628467 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp11.4(chrX:38490102-38628467)x3 copy number gain not provided [RCV000753514] ChrX:38490102..38628467 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp11.4(chrX:38490844-38577270)x2 copy number gain not provided [RCV000753515] ChrX:38490844..38577270 [GRCh37]
ChrX:Xp11.4
benign
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 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_004615.3(TSPAN7):c.310G>A (p.Val104Ile) single nucleotide variant not provided [RCV000762621] ChrX:38671415 [GRCh38]
ChrX:38530669 [GRCh37]
ChrX:Xp11.4
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_004615.3(TSPAN7):c.516C>A (p.Pro172=) single nucleotide variant not provided [RCV000906337] ChrX:38675779 [GRCh38]
ChrX:38535033 [GRCh37]
ChrX:Xp11.4
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2 copy number gain not provided [RCV000848974] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x3 copy number gain not provided [RCV000848391] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2 copy number gain not provided [RCV000849135] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2 copy number gain not provided [RCV000847730] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38438500-38619112)x0 copy number loss not provided [RCV000849241] ChrX:38438500..38619112 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp11.4(chrX:38476857-38629433)x3 copy number gain not provided [RCV000847224] ChrX:38476857..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x3 copy number gain not provided [RCV000849948] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2 copy number gain not provided [RCV000846704] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2 copy number gain not provided [RCV000847626] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x3 copy number gain not provided [RCV000847332] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3 copy number gain not provided [RCV000845673] ChrX:38056276..40565244 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.4(chrX:38486618-38628467)x3 copy number gain not provided [RCV000846666] ChrX:38486618..38628467 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2 copy number gain not provided [RCV000846997] ChrX:38486618..38629433 [GRCh37]
ChrX:Xp11.4
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
NM_004615.3(TSPAN7):c.598-8C>T single nucleotide variant not provided [RCV000999396] ChrX:38681196 [GRCh38]
ChrX:38540450 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NC_000023.10:g.(?_38505491)_(38546921_?)dup duplication not provided [RCV001033910] ChrX:38505491..38546921 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_004615.4(TSPAN7):c.516del (p.Ser173fs) deletion Intellectual disability [RCV001252384] ChrX:38675773 [GRCh38]
ChrX:38535027 [GRCh37]
ChrX:Xp11.4
uncertain significance
Single allele deletion Retinitis pigmentosa 15 [RCV001251576] ChrX:35820200..38547007 [GRCh37]
ChrX:Xp21.1-11.4
pathogenic
GRCh37/hg19 Xp11.4(chrX:38283785-38540836)x0 copy number loss not provided [RCV001258958] ChrX:38283785..38540836 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3 copy number gain not provided [RCV001258967] ChrX:37487291..38568933 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11854 AgrOrtholog
COSMIC TSPAN7 COSMIC
Ensembl Genes ENSG00000156298 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000286824 UniProtKB/TrEMBL
  ENSP00000367743 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418586 UniProtKB/TrEMBL
  ENSP00000419290 UniProtKB/TrEMBL
  ENSP00000419321 UniProtKB/TrEMBL
Ensembl Transcript ENST00000286824 UniProtKB/TrEMBL
  ENST00000378482 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000471410 UniProtKB/TrEMBL
  ENST00000475216 UniProtKB/TrEMBL
  ENST00000480976 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1450.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156298 GTEx
HGNC ID HGNC:11854 ENTREZGENE
Human Proteome Map TSPAN7 Human Proteome Map
InterPro Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin/Peripherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin_EC2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7102 UniProtKB/Swiss-Prot
NCBI Gene 7102 ENTREZGENE
OMIM 300096 OMIM
  300210 OMIM
Pfam Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36555 PharmGKB
PIRSF Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TMFOUR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TM4_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48652 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DDG0_HUMAN UniProtKB/TrEMBL
  F8WC96_HUMAN UniProtKB/TrEMBL
  F8WF47_HUMAN UniProtKB/TrEMBL
  F8WF53_HUMAN UniProtKB/TrEMBL
  P41732 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R5W7 UniProtKB/Swiss-Prot
  D3DWB1 UniProtKB/Swiss-Prot
  Q8WVG5 UniProtKB/Swiss-Prot
  Q9UEY9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-16 TSPAN7  tetraspanin 7  MRX58  mental retardation, X-linked 58  Data Merged 737654 PROVISIONAL
2011-08-17 TSPAN7  tetraspanin 7  TSPAN7  tetraspanin 7  Symbol and/or name change 5135510 APPROVED