TMEM47 (transmembrane protein 47) - Rat Genome Database

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Gene: TMEM47 (transmembrane protein 47) Homo sapiens
Analyze
Symbol: TMEM47
Name: transmembrane protein 47
RGD ID: 1343840
HGNC Page HGNC
Description: Predicted to be involved in cell-cell adhesion. Localizes to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCMP1; brain cell membrane protein 1; DKFZp564E153; DKFZp761J17121; FLJ18096; MGC32949; TM4SF10; transmembrane 4 superfamily member 10; VAB-9
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 EnsemblX34,627,075 - 34,657,285 (-)EnsemblGRCh38hg38GRCh38
GRCh38X34,627,075 - 34,657,285 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X34,645,192 - 34,675,402 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X34,555,102 - 34,585,326 (-)NCBINCBI36hg18NCBI36
Build 34X34,404,838 - 34,435,062NCBI
CeleraX38,772,420 - 38,802,641 (-)NCBI
Cytogenetic MapXp21.1NCBI
HuRefX32,387,635 - 32,399,815 (-)NCBIHuRef
CHM1_1X34,675,754 - 34,705,981 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15345028   PMID:15489334   PMID:15489336   PMID:15772651   PMID:16381901   PMID:18056173   PMID:21873635  
PMID:21881001   PMID:23412934   PMID:26990309   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
TMEM47
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX34,627,075 - 34,657,285 (-)EnsemblGRCh38hg38GRCh38
GRCh38X34,627,075 - 34,657,285 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X34,645,192 - 34,675,402 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X34,555,102 - 34,585,326 (-)NCBINCBI36hg18NCBI36
Build 34X34,404,838 - 34,435,062NCBI
CeleraX38,772,420 - 38,802,641 (-)NCBI
Cytogenetic MapXp21.1NCBI
HuRefX32,387,635 - 32,399,815 (-)NCBIHuRef
CHM1_1X34,675,754 - 34,705,981 (-)NCBICHM1_1
Tmem47
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X80,114,250 - 80,141,481 (+)NCBIGRCm39mm39
GRCm39 EnsemblX80,114,304 - 80,141,478 (+)Ensembl
GRCm38X81,070,644 - 81,097,875 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX81,070,698 - 81,097,872 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X78,315,983 - 78,343,214 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X77,323,430 - 77,349,182 (+)NCBImm8
CeleraX72,328,417 - 72,355,541 (+)NCBICelera
Cytogenetic MapXBNCBI
Tmem47
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X45,421,405 - 45,447,900 (+)NCBI
Rnor_6.0 EnsemblX48,779,110 - 48,805,644 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X48,779,110 - 48,805,644 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X48,984,317 - 49,010,851 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X67,522,289 - 67,549,061 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX46,067,701 - 46,094,193 (+)NCBICelera
Cytogenetic MapXq21NCBI
Tmem47
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555711,191,700 - 1,222,309 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555711,192,213 - 1,222,057 (+)NCBIChiLan1.0ChiLan1.0
TMEM47
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X34,807,038 - 34,836,965 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX34,810,272 - 34,836,876 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X27,277,397 - 27,307,540 (-)NCBIMhudiblu_PPA_v0panPan3
TMEM47
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X29,675,386 - 29,705,941 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX29,675,387 - 29,705,941 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX34,669,753 - 34,700,160 (-)NCBI
ROS_Cfam_1.0X29,719,784 - 29,750,211 (-)NCBI
UMICH_Zoey_3.1X29,776,454 - 29,806,855 (-)NCBI
UNSW_CanFamBas_1.0X29,765,071 - 29,795,450 (-)NCBI
UU_Cfam_GSD_1.0X29,874,925 - 29,905,345 (-)NCBI
Tmem47
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X22,149,813 - 22,177,523 (-)NCBI
SpeTri2.0NW_0049365021,990,524 - 2,018,707 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM47
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX30,584,044 - 30,615,232 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X30,584,044 - 30,615,233 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X33,945,787 - 33,976,572 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM47
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X33,172,996 - 33,203,711 (-)NCBI
ChlSab1.1 EnsemblX33,172,990 - 33,203,678 (-)Ensembl
Tmem47
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476221,100,254 - 21,129,793 (+)NCBI

Position Markers
DXS1049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X35,177,100 - 35,177,291UniSTSGRCh37
Build 36X35,087,021 - 35,087,212RGDNCBI36
CeleraX39,304,564 - 39,304,755RGD
HuRefX32,918,237 - 32,918,432UniSTS
Marshfield Genetic MapX36.79RGD
Genethon Genetic MapX55.3UniSTS
deCODE Assembly MapX55.02UniSTS
STS-N41007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,647,396 - 34,647,522UniSTSGRCh37
Build 36X34,557,317 - 34,557,443RGDNCBI36
CeleraX38,774,635 - 38,774,761RGD
Cytogenetic MapXp11.4UniSTS
HuRefX32,389,850 - 32,389,976UniSTS
GeneMap99-GB4 RH MapX110.82UniSTS
DXS1339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X36,750,129 - 36,750,285UniSTSGRCh37
Build 36X36,660,050 - 36,660,206RGDNCBI36
CeleraX40,877,721 - 40,877,877RGD
HuRefX34,530,252 - 34,530,408UniSTS
DXS1382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X35,145,213 - 35,145,396UniSTSGRCh37
Build 36X35,055,134 - 35,055,317RGDNCBI36
CeleraX39,272,680 - 39,272,863RGD
HuRefX32,886,538 - 32,886,721UniSTS
RH121622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X35,159,865 - 35,160,172UniSTSGRCh37
Build 36X35,069,786 - 35,070,093RGDNCBI36
CeleraX39,287,332 - 39,287,639RGD
HuRefX32,901,012 - 32,901,319UniSTS
TNG Radiation Hybrid MapX6194.0UniSTS
RH122971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X36,960,179 - 36,960,281UniSTSGRCh37
Build 36X36,870,100 - 36,870,202RGDNCBI36
CeleraX41,084,400 - 41,084,502RGD
HuRefX34,743,926 - 34,744,028UniSTS
SHGC-111287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,851,836 - 34,852,124UniSTSGRCh37
Build 36X34,761,757 - 34,762,045RGDNCBI36
CeleraX38,979,079 - 38,979,367RGD
HuRefX32,593,328 - 32,593,616UniSTS
TNG Radiation Hybrid MapX5982.0UniSTS
SHGC-105900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X35,762,364 - 35,762,684UniSTSGRCh37
Build 36X35,672,285 - 35,672,605RGDNCBI36
CeleraX39,889,983 - 39,890,303RGD
HuRefX33,503,496 - 33,503,816UniSTS
TNG Radiation Hybrid MapX5658.0UniSTS
SHGC-105886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X35,762,365 - 35,762,684UniSTSGRCh37
Build 36X35,672,286 - 35,672,605RGDNCBI36
CeleraX39,889,984 - 39,890,303RGD
HuRefX33,503,497 - 33,503,816UniSTS
TNG Radiation Hybrid MapX5653.0UniSTS
SHGC-142248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,892,716 - 34,893,051UniSTSGRCh37
Build 36X34,802,637 - 34,802,972RGDNCBI36
CeleraX39,019,959 - 39,020,294RGD
HuRefX32,634,589 - 32,634,924UniSTS
TNG Radiation Hybrid MapX6012.0UniSTS
stFSX915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X36,561,172 - 36,561,347UniSTSGRCh37
Build 36X36,471,093 - 36,471,268RGDNCBI36
CeleraX40,688,768 - 40,688,943RGD
HuRefX34,304,820 - 34,304,995UniSTS
SHGC-112103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,920,840 - 34,921,127UniSTSGRCh37
Build 36X34,830,761 - 34,831,048RGDNCBI36
CeleraX39,048,086 - 39,048,373RGD
HuRefX32,662,738 - 32,663,025UniSTS
TNG Radiation Hybrid MapX6003.0UniSTS
SHGC-132877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,646,681 - 34,647,018UniSTSGRCh37
Build 36X34,556,602 - 34,556,939RGDNCBI36
CeleraX38,773,920 - 38,774,257RGD
Cytogenetic MapXp11.4UniSTS
HuRefX32,389,135 - 32,389,472UniSTS
TNG Radiation Hybrid MapX8836.0UniSTS
SHGC-83503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X35,110,186 - 35,110,467UniSTSGRCh37
Build 36X35,020,107 - 35,020,388RGDNCBI36
CeleraX39,237,632 - 39,237,913RGD
HuRefX32,851,383 - 32,851,664UniSTS
TNG Radiation Hybrid MapX6186.0UniSTS
PMC310823P13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,708,351 - 34,708,450UniSTSGRCh37
Build 36X34,618,272 - 34,618,371RGDNCBI36
CeleraX38,835,587 - 38,835,686RGD
HuRefX32,450,775 - 32,450,874UniSTS
STS-T48038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,645,254 - 34,645,501UniSTSGRCh37
Build 36X34,555,175 - 34,555,422RGDNCBI36
CeleraX38,772,493 - 38,772,740RGD
Cytogenetic MapXp11.4UniSTS
HuRefX32,387,708 - 32,387,955UniSTS
GeneMap99-GB4 RH MapX112.8UniSTS
REN105954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377114,915,961 - 114,916,219UniSTSGRCh37
GRCh37X35,648,721 - 35,648,978UniSTSGRCh37
Build 36X35,558,642 - 35,558,899RGDNCBI36
CeleraX39,776,222 - 39,776,479RGD
Celera7109,722,501 - 109,722,759UniSTS
HuRefX33,389,872 - 33,390,129UniSTS
HuRef7109,280,698 - 109,280,956UniSTS
CRA_TCAGchr7v27114,311,309 - 114,311,567UniSTS
DXS7790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,907,544 - 34,907,657UniSTSGRCh37
Build 36X34,817,465 - 34,817,578RGDNCBI36
CeleraX39,034,789 - 39,034,902RGD
HuRefX32,649,419 - 32,649,532UniSTS
DXS8192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X35,150,463 - 35,150,620UniSTSGRCh37
Build 36X35,060,384 - 35,060,541RGDNCBI36
CeleraX39,277,930 - 39,278,087RGD
HuRefX32,891,791 - 32,891,948UniSTS
DXS8190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,663,901 - 34,664,049UniSTSGRCh37
Build 36X34,573,822 - 34,573,970RGDNCBI36
CeleraX38,791,140 - 38,791,288RGD
Cytogenetic MapXp11.4UniSTS
HuRefX32,406,059 - 32,406,207UniSTS
DXS7653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,715,412 - 34,715,500UniSTSGRCh37
Build 36X34,625,333 - 34,625,421RGDNCBI36
CeleraX38,842,648 - 38,842,736RGD
HuRefX32,457,339 - 32,457,427UniSTS
GDB:313823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,733,835 - 34,734,041UniSTSGRCh37
Build 36X34,643,756 - 34,643,962RGDNCBI36
CeleraX38,861,070 - 38,861,280RGD
HuRefX32,476,048 - 32,476,250UniSTS
SHGC-54257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,646,692 - 34,646,853UniSTSGRCh37
Build 36X34,556,613 - 34,556,774RGDNCBI36
CeleraX38,773,931 - 38,774,092RGD
Cytogenetic MapXp11.4UniSTS
HuRefX32,389,146 - 32,389,307UniSTS
DXS1182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X35,259,741 - 35,259,972UniSTSGRCh37
Build 36X35,169,662 - 35,169,893RGDNCBI36
CeleraX39,387,208 - 39,387,439RGD
HuRefX33,000,444 - 33,000,661UniSTS
RH67914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,645,276 - 34,645,495UniSTSGRCh37
Build 36X34,555,197 - 34,555,416RGDNCBI36
CeleraX38,772,515 - 38,772,734RGD
Cytogenetic MapXp11.4UniSTS
HuRefX32,387,730 - 32,387,949UniSTS
GeneMap99-GB4 RH MapX112.16UniSTS
L77275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X34,944,644 - 34,944,705UniSTSGRCh37
Build 36X34,854,565 - 34,854,626RGDNCBI36
CeleraX39,071,890 - 39,071,951RGD
HuRefX32,686,086 - 32,686,147UniSTS
stSG614592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37790,026,574 - 90,027,573UniSTSGRCh37
GRCh37X34,679,611 - 34,680,642UniSTSGRCh37
Build 36X34,589,532 - 34,590,563RGDNCBI36
Celera784,730,646 - 84,731,643UniSTS
CeleraX38,806,847 - 38,807,878RGD
Celera784,730,646 - 84,731,645UniSTS
HuRef784,635,867 - 84,636,866UniSTS
HuRef784,635,867 - 84,636,886UniSTS
HuRefX32,421,714 - 32,422,745UniSTS
CRA_TCAGchr7v2789,357,387 - 89,358,386UniSTS
CRA_TCAGchr7v2789,357,387 - 89,358,384UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2389
Count of miRNA genes:1035
Interacting mature miRNAs:1306
Transcripts:ENST00000275954
Prediction methods:Miranda, Pita, 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 1
Medium 1941 1979 1147 301 171 167 3355 1850 2799 292 944 1367 135 1196 2294
Low 407 268 563 315 410 287 978 331 907 117 474 148 30 1 8 494 2 1
Below cutoff 32 684 4 3 724 5 7 3 11 7 18 39 4 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000275954   ⟹   ENSP00000275954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX34,627,075 - 34,657,285 (-)Ensembl
RefSeq Acc Id: NM_031442   ⟹   NP_113630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X34,627,075 - 34,657,285 (-)NCBI
GRCh37X34,645,181 - 34,675,405 (-)RGD
Build 36X34,555,102 - 34,585,326 (-)NCBI Archive
CeleraX38,772,420 - 38,802,641 (-)RGD
HuRefX32,387,635 - 32,399,815 (-)ENTREZGENE
CHM1_1X34,675,754 - 34,705,981 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_113630 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH39242 (Get FASTA)   NCBI Sequence Viewer  
  CAB66485 (Get FASTA)   NCBI Sequence Viewer  
  EAW99070 (Get FASTA)   NCBI Sequence Viewer  
  EAW99071 (Get FASTA)   NCBI Sequence Viewer  
  Q9BQJ4 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_113630   ⟸   NM_031442
- UniProtKB: Q9BQJ4 (UniProtKB/Swiss-Prot),   A0A024RBY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000275954   ⟸   ENST00000275954

Promoters
RGD ID:6808638
Promoter ID:HG_KWN:66382
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_031442,   UC010NGS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X34,585,026 - 34,585,526 (-)MPROMDB
RGD ID:13604998
Promoter ID:EPDNEW_H28684
Type:initiation region
Name:TMEM47_1
Description:transmembrane protein 47
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X34,657,285 - 34,657,345EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:10679-156013167)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-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 Xp22.33-11.22(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 Xp21.1-11.4(chrX:31665506-37921988)x0 copy number loss See cases [RCV000053080] ChrX:31665506..37921988 [GRCh38]
ChrX:31683623..37781241 [GRCh37]
ChrX:31593544..37666185 [NCBI36]
ChrX:Xp21.1-11.4
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: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 Xp22.33-11.21(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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp22.33-11.1(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 Xp22.33-11.21(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 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 Xp22.33-11.22(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_031442.3(TMEM47):c.488C>T (p.Ser163Leu) single nucleotide variant Malignant melanoma [RCV000073178] ChrX:34630371 [GRCh38]
ChrX:34648488 [GRCh37]
ChrX:34558409 [NCBI36]
ChrX:Xp21.1
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
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
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:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.33-11.23(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 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 Xp22.31-11.22(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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-11.22(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: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 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-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 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3 copy number gain See cases [RCV000138078] ChrX:28234352..37850186 [GRCh38]
ChrX:28252469..37709439 [GRCh37]
ChrX:28162390..37594383 [NCBI36]
ChrX:Xp21.3-11.4
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(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-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 Xp22.33-11.4(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: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 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 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 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 Xp22.33-11.21(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 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 Xp21.3-11.4(chrX:28218244-37855706)x3 copy number gain See cases [RCV000143685] ChrX:28218244..37855706 [GRCh38]
ChrX:28236361..37714959 [GRCh37]
ChrX:28146282..37599903 [NCBI36]
ChrX:Xp21.3-11.4
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-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-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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 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 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 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 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
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 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(chrX:34376205-34779317)x0 copy number loss See cases [RCV000511912] ChrX:34376205..34779317 [GRCh37]
ChrX:Xp21.1
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
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro) single nucleotide variant Dandy-Walker syndrome [RCV000491018] ChrX:34656995 [GRCh38]
ChrX:34675112 [GRCh37]
ChrX:Xp21.1
likely pathogenic
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 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 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 Xp21.1(chrX:34310804-35457990)x3 copy number gain not provided [RCV000684316] ChrX:34310804..35457990 [GRCh37]
ChrX:Xp21.1
likely benign
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 Xp21.1(chrX:34521691-34834077)x3 copy number gain not provided [RCV000753499] ChrX:34521691..34834077 [GRCh37]
ChrX:Xp21.1
benign
GRCh37/hg19 Xp21.1(chrX:34541283-34897286)x3 copy number gain not provided [RCV000753500] ChrX:34541283..34897286 [GRCh37]
ChrX:Xp21.1
benign
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
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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_031442.4(TMEM47):c.183C>T (p.Pro61=) single nucleotide variant not provided [RCV000924395] ChrX:34656847 [GRCh38]
ChrX:34674964 [GRCh37]
ChrX:Xp21.1
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
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
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
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 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_031442.4(TMEM47):c.219C>T (p.Leu73=) single nucleotide variant not provided [RCV000931401] ChrX:34656811 [GRCh38]
ChrX:34674928 [GRCh37]
ChrX:Xp21.1
likely benign
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
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(chrX:34645143-35206581)x3 copy number gain not provided [RCV001007293] ChrX:34645143..35206581 [GRCh37]
ChrX:Xp21.1
likely benign
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 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:18515 AgrOrtholog
COSMIC TMEM47 COSMIC
Ensembl Genes ENSG00000147027 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000275954 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000275954 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147027 GTEx
HGNC ID HGNC:18515 ENTREZGENE
Human Proteome Map TMEM47 Human Proteome Map
InterPro P53_induced UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83604 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 83604 ENTREZGENE
OMIM 300698 OMIM
PANTHER PTHR14399 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134971248 PharmGKB
UniProt A0A024RBY7 ENTREZGENE, UniProtKB/TrEMBL
  Q9BQJ4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5JR44 UniProtKB/Swiss-Prot