VSIG4 (V-set and immunoglobulin domain containing 4) - Rat Genome Database

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Gene: VSIG4 (V-set and immunoglobulin domain containing 4) Homo sapiens
Analyze
Symbol: VSIG4
Name: V-set and immunoglobulin domain containing 4
RGD ID: 1354021
HGNC Page HGNC
Description: Exhibits complement component C3b binding activity. Involved in negative regulation of complement activation, alternative pathway. Localizes to protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: complement receptor of the immunoglobulin superfamily; CRIg; Ig superfamily protein; V-set and immunoglobulin domain-containing protein 4; Z39IG
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 EnsemblX66,021,738 - 66,040,125 (-)EnsemblGRCh38hg38GRCh38
GRCh38X66,021,738 - 66,040,092 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X65,241,580 - 65,259,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X65,158,305 - 65,176,692 (-)NCBINCBI36hg18NCBI36
Build 34X65,024,600 - 65,042,906NCBI
CeleraX65,588,725 - 65,607,111 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX59,068,686 - 59,087,663 (-)NCBIHuRef
CHM1_1X65,134,610 - 65,152,555 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:11004523   PMID:11997108   PMID:12477932   PMID:12975309   PMID:15340161   PMID:15342556   PMID:15489334   PMID:16009265   PMID:16303743   PMID:16530040   PMID:16882875   PMID:17016555  
PMID:17016562   PMID:17051150   PMID:18029348   PMID:18727628   PMID:18752851   PMID:19797726   PMID:19914289   PMID:20399148   PMID:21768202   PMID:21832049   PMID:21873635   PMID:21988832  
PMID:23284715   PMID:23376485   PMID:23383108   PMID:24349325   PMID:24862966   PMID:25114177   PMID:25687755   PMID:26186194   PMID:27440002   PMID:27634309   PMID:28005267   PMID:28498255  
PMID:28514442   PMID:28859984   PMID:29268030   PMID:30429287   PMID:30745168   PMID:31266632   PMID:32296183  


Genomics

Comparative Map Data
VSIG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX66,021,738 - 66,040,125 (-)EnsemblGRCh38hg38GRCh38
GRCh38X66,021,738 - 66,040,092 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X65,241,580 - 65,259,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X65,158,305 - 65,176,692 (-)NCBINCBI36hg18NCBI36
Build 34X65,024,600 - 65,042,906NCBI
CeleraX65,588,725 - 65,607,111 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX59,068,686 - 59,087,663 (-)NCBIHuRef
CHM1_1X65,134,610 - 65,152,555 (-)NCBICHM1_1
Vsig4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X95,290,807 - 95,337,044 (-)NCBIGRCm39mm39
GRCm39 EnsemblX95,290,809 - 95,337,044 (-)Ensembl
GRCm38X96,247,201 - 96,293,438 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX96,247,203 - 96,293,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X93,442,542 - 93,488,777 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X92,449,922 - 92,496,157 (-)NCBImm8
CeleraX83,251,817 - 83,298,808 (-)NCBICelera
Cytogenetic MapXC3NCBI
Vsig4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X61,144,926 - 61,170,212 (-)NCBI
Rnor_6.0 EnsemblX65,370,851 - 65,400,298 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X65,370,851 - 65,400,298 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X66,208,997 - 66,234,590 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X83,872,092 - 83,898,242 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX61,557,850 - 61,582,973 (-)NCBICelera
Cytogenetic MapXq22NCBI
Vsig4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554755,461,064 - 5,481,564 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554755,461,512 - 5,481,552 (-)NCBIChiLan1.0ChiLan1.0
VSIG4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X65,211,313 - 65,228,888 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX65,211,313 - 65,229,332 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X55,137,938 - 55,155,569 (-)NCBIMhudiblu_PPA_v0panPan3
VSIG4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X50,839,979 - 50,881,684 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX50,803,330 - 50,881,618 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX41,659,551 - 41,719,546 (-)NCBI
ROS_Cfam_1.0X51,785,928 - 51,845,934 (-)NCBI
UMICH_Zoey_3.1X49,750,420 - 49,810,399 (-)NCBI
UNSW_CanFamBas_1.0X51,098,349 - 51,158,343 (-)NCBI
UU_Cfam_GSD_1.0X51,013,686 - 51,073,693 (-)NCBI
Vsig4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X51,402,029 - 51,426,149 (+)NCBI
SpeTri2.0NW_0049366352,167,633 - 2,191,725 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VSIG4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX52,175,605 - 52,198,621 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X52,175,601 - 52,198,635 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X58,745,331 - 58,775,852 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VSIG4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X55,963,007 - 55,982,929 (-)NCBI
ChlSab1.1 EnsemblX55,962,866 - 55,981,287 (-)Ensembl
Vsig4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248981,268,998 - 1,288,756 (+)NCBI

Position Markers
A004A09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,241,625 - 65,241,871UniSTSGRCh37
Build 36X65,158,350 - 65,158,596RGDNCBI36
CeleraX65,588,770 - 65,589,016RGD
Cytogenetic MapXq12-q13.3UniSTS
HuRefX59,068,731 - 59,068,977UniSTS
GeneMap99-GB4 RH MapX217.93UniSTS
NCBI RH MapX340.6UniSTS
DXS7023E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,241,600 - 65,241,849UniSTSGRCh37
Build 36X65,158,325 - 65,158,574RGDNCBI36
CeleraX65,588,745 - 65,588,994RGD
Cytogenetic MapXq12-q13.3UniSTS
HuRefX59,068,706 - 59,068,955UniSTS
GeneMap99-GB4 RH MapX217.41UniSTS
NCBI RH MapX340.6UniSTS
VSIG4_9263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,241,502 - 65,242,243UniSTSGRCh37
Build 36X65,158,227 - 65,158,968RGDNCBI36
CeleraX65,588,647 - 65,589,388RGD
HuRefX59,068,608 - 59,069,349UniSTS
DXS9792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,241,656 - 65,241,763UniSTSGRCh37
Build 36X65,158,381 - 65,158,488RGDNCBI36
CeleraX65,588,801 - 65,588,908RGD
Cytogenetic MapXq12-q13.3UniSTS
HuRefX59,068,762 - 59,068,869UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2126
Count of miRNA genes:828
Interacting mature miRNAs:943
Transcripts:ENST00000374737, ENST00000412866, ENST00000427538, ENST00000455586
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 1 1 1 4 5
Medium 1822 2004 890 291 900 179 2440 1015 1170 179 611 1049 113 1163 1553 2
Low 489 947 794 303 426 253 1613 1076 2248 178 732 335 53 1 36 1202 1 1
Below cutoff 3 33 14 12 195 11 45 55 232 19 13 4 33 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001100431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ132502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL542949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL552873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL553835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP292528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX482258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA310184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA405669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ789678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM881262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM881264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC190740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC190742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374737   ⟹   ENSP00000363869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,021,738 - 66,040,080 (-)Ensembl
RefSeq Acc Id: ENST00000412866   ⟹   ENSP00000394143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,021,769 - 66,040,060 (-)Ensembl
RefSeq Acc Id: ENST00000427538   ⟹   ENSP00000393108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,021,738 - 66,033,664 (-)Ensembl
RefSeq Acc Id: ENST00000455586   ⟹   ENSP00000411581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,021,740 - 66,040,125 (-)Ensembl
RefSeq Acc Id: ENST00000651578   ⟹   ENSP00000498502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,021,778 - 66,040,113 (-)Ensembl
RefSeq Acc Id: NM_001100431   ⟹   NP_001093901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,021,738 - 66,040,080 (-)NCBI
GRCh37X65,241,580 - 65,259,967 (-)ENTREZGENE
Build 36X65,158,305 - 65,176,692 (-)NCBI Archive
HuRefX59,068,686 - 59,087,663 (-)ENTREZGENE
CHM1_1X65,134,610 - 65,152,555 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184830   ⟹   NP_001171759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,021,738 - 66,040,080 (-)NCBI
GRCh37X65,241,580 - 65,259,967 (-)ENTREZGENE
HuRefX59,068,686 - 59,087,663 (-)ENTREZGENE
CHM1_1X65,134,610 - 65,152,555 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184831   ⟹   NP_001171760
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,021,738 - 66,040,080 (-)NCBI
GRCh37X65,241,580 - 65,259,967 (-)ENTREZGENE
HuRefX59,068,686 - 59,087,663 (-)ENTREZGENE
CHM1_1X65,134,610 - 65,152,555 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001257403   ⟹   NP_001244332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,021,738 - 66,040,080 (-)NCBI
GRCh37X65,241,580 - 65,259,967 (-)NCBI
HuRefX59,068,686 - 59,087,663 (-)NCBI
CHM1_1X65,134,610 - 65,152,555 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007268   ⟹   NP_009199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,021,738 - 66,040,080 (-)NCBI
GRCh37X65,241,580 - 65,259,967 (-)ENTREZGENE
Build 36X65,158,305 - 65,176,692 (-)NCBI Archive
HuRefX59,068,686 - 59,087,663 (-)ENTREZGENE
CHM1_1X65,134,610 - 65,152,555 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029251   ⟹   XP_016884740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,021,738 - 66,040,092 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001093901   ⟸   NM_001100431
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9Y279 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171760   ⟸   NM_001184831
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9Y279 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009199   ⟸   NM_007268
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9Y279 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171759   ⟸   NM_001184830
- Peptide Label: isoform 4 precursor
- UniProtKB: Q9Y279 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244332   ⟸   NM_001257403
- Peptide Label: isoform 5 precursor
- UniProtKB: Q9Y279 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884740   ⟸   XM_017029251
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000394143   ⟸   ENST00000412866
RefSeq Acc Id: ENSP00000393108   ⟸   ENST00000427538
RefSeq Acc Id: ENSP00000363869   ⟸   ENST00000374737
RefSeq Acc Id: ENSP00000498502   ⟸   ENST00000651578
RefSeq Acc Id: ENSP00000411581   ⟸   ENST00000455586
Protein Domains
Ig-like

Promoters
RGD ID:6809390
Promoter ID:HG_KWN:67072
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC004DWL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X65,169,886 - 65,170,386 (-)MPROMDB
RGD ID:6809389
Promoter ID:HG_KWN:67073
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_001100431,   NM_001184830,   NM_001184831,   NM_007268,   OTTHUMT00000056987,   UC004DWK.2,   UC010NKQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X65,176,386 - 65,176,886 (-)MPROMDB
RGD ID:13627319
Promoter ID:EPDNEW_H28936
Type:initiation region
Name:VSIG4_1
Description:V-set and immunoglobulin domain containing 4
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
GRCh38X66,040,080 - 66,040,140EPDNEW

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:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
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-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-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 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq12(chrX:65901792-66733457)x2 copy number gain See cases [RCV000141544] ChrX:65901792..66733457 [GRCh38]
ChrX:65121634..65953299 [GRCh37]
ChrX:65038359..65870024 [NCBI36]
ChrX:Xq12
uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
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-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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3 copy number gain See cases [RCV000239973] ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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: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 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq12(chrX:65057519-66020568)x3 copy number gain See cases [RCV000447036] ChrX:65057519..66020568 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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: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-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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
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-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_007268.3(VSIG4):c.413-10T>G single nucleotide variant not provided [RCV000895897] ChrX:66032759 [GRCh38]
ChrX:65252601 [GRCh37]
ChrX:Xq12
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
NM_007268.3(VSIG4):c.694+7G>A single nucleotide variant not provided [RCV000924119] ChrX:66032461 [GRCh38]
ChrX:65252303 [GRCh37]
ChrX:Xq12
likely benign
NM_007268.3(VSIG4):c.1148C>T (p.Thr383Ile) single nucleotide variant not provided [RCV000960326] ChrX:66022315 [GRCh38]
ChrX:65242157 [GRCh37]
ChrX:Xq12
benign
NM_007268.3(VSIG4):c.274G>T (p.Val92Phe) single nucleotide variant not provided [RCV000960327] ChrX:66033612 [GRCh38]
ChrX:65253454 [GRCh37]
ChrX:Xq12
benign
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
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 Xq12(chrX:65255929-65894285)x3 copy number gain not provided [RCV001259000] ChrX:65255929..65894285 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17032 AgrOrtholog
COSMIC VSIG4 COSMIC
Ensembl Genes ENSG00000155659 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000363869 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393108 UniProtKB/TrEMBL
  ENSP00000394143 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411581 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498502 UniProtKB/TrEMBL
Ensembl Transcript ENST00000374737 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000412866 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427538 UniProtKB/TrEMBL
  ENST00000455586 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000651578 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155659 GTEx
HGNC ID HGNC:17032 ENTREZGENE
Human Proteome Map VSIG4 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VSIG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VSIG4_IgV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11326 UniProtKB/Swiss-Prot
NCBI Gene 11326 ENTREZGENE
OMIM 300353 OMIM
PANTHER PTHR15466 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134986421 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0F5_HUMAN UniProtKB/TrEMBL
  H7C062_HUMAN UniProtKB/TrEMBL
  Q9Y279 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6UXI4 UniProtKB/Swiss-Prot