AMOT (angiomotin) - Rat Genome Database

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Gene: AMOT (angiomotin) Homo sapiens
Analyze
Symbol: AMOT
Name: angiomotin
RGD ID: 1344662
HGNC Page HGNC
Description: Exhibits angiostatin binding activity and signaling receptor activity. Involved in several processes, including hippo signaling; negative regulation of angiogenesis; and positive regulation of blood vessel endothelial cell migration. Localizes to several cellular components, including actin cytoskeleton; bicellular tight junction; and ruffle. Colocalizes with COP9 signalosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: angiomotin p130 isoform; angiomotin p80 isoform; KIAA1071
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 EnsemblX112,774,503 - 112,840,889 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX112,774,503 - 112,840,815 (-)EnsemblGRCh38hg38GRCh38
GRCh38X112,774,877 - 112,840,945 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X112,018,105 - 112,084,059 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X111,904,761 - 111,970,699 (-)NCBINCBI36hg18NCBI36
Build 34X111,823,875 - 111,890,188NCBI
CeleraX112,502,736 - 112,568,672 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX101,645,090 - 101,710,229 (-)NCBIHuRef
CHM1_1X111,929,234 - 111,995,169 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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:12345   PMID:123345   PMID:10470851   PMID:11257124   PMID:11257132   PMID:12168954   PMID:12406577   PMID:12477932   PMID:12902404   PMID:14702039   PMID:15489334   PMID:15804419  
PMID:16043488   PMID:16196087   PMID:16640563   PMID:16678097   PMID:16754857   PMID:17148452   PMID:18824598   PMID:18850735   PMID:19460752   PMID:19565639   PMID:19590046   PMID:19615732  
PMID:19913121   PMID:20080965   PMID:20562859   PMID:20628086   PMID:21139048   PMID:21145461   PMID:21145499   PMID:21187284   PMID:21205866   PMID:21224387   PMID:21285250   PMID:21481793  
PMID:21532586   PMID:21832049   PMID:21873635   PMID:21890473   PMID:22053931   PMID:22268729   PMID:22385262   PMID:22939629   PMID:22948661   PMID:23000965   PMID:23389031   PMID:23414517  
PMID:23443559   PMID:23564455   PMID:23588948   PMID:24003252   PMID:24003254   PMID:24101513   PMID:24106267   PMID:24225952   PMID:24244333   PMID:24255178   PMID:24366813   PMID:24532565  
PMID:24548561   PMID:24550385   PMID:24648494   PMID:24711643   PMID:24722188   PMID:24981860   PMID:24984263   PMID:24999758   PMID:25026211   PMID:25036637   PMID:25071155   PMID:25192599  
PMID:25281560   PMID:25381822   PMID:25416956   PMID:25556234   PMID:25633977   PMID:25647626   PMID:25662211   PMID:26045165   PMID:26186194   PMID:26239614   PMID:26486328   PMID:26549023  
PMID:26638075   PMID:26848622   PMID:26972000   PMID:27173435   PMID:27432908   PMID:27462448   PMID:27498087   PMID:27503909   PMID:27505670   PMID:27521426   PMID:27609421   PMID:27779692  
PMID:28052036   PMID:28464980   PMID:28514442   PMID:28720576   PMID:28885730   PMID:29036193   PMID:29053956   PMID:29128334   PMID:29180619   PMID:29377471   PMID:29564676   PMID:29676528  
PMID:29752344   PMID:29845934   PMID:29891922   PMID:29987050   PMID:30266805   PMID:30455355   PMID:30472188   PMID:30561431   PMID:30619736   PMID:30792381   PMID:30948266   PMID:30996134  
PMID:31006631   PMID:31048545   PMID:31240132   PMID:31501420   PMID:31685992   PMID:31762063   PMID:31800378   PMID:32129710   PMID:32296183   PMID:32381509  


Genomics

Comparative Map Data
AMOT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX112,774,503 - 112,840,889 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX112,774,503 - 112,840,815 (-)EnsemblGRCh38hg38GRCh38
GRCh38X112,774,877 - 112,840,945 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X112,018,105 - 112,084,059 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X111,904,761 - 111,970,699 (-)NCBINCBI36hg18NCBI36
Build 34X111,823,875 - 111,890,188NCBI
CeleraX112,502,736 - 112,568,672 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX101,645,090 - 101,710,229 (-)NCBIHuRef
CHM1_1X111,929,234 - 111,995,169 (-)NCBICHM1_1
Amot
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X144,229,420 - 144,288,962 (-)NCBIGRCm39mm39
GRCm39 EnsemblX144,229,421 - 144,288,177 (-)Ensembl
GRCm38X145,446,424 - 145,505,966 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX145,446,425 - 145,505,181 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X141,880,967 - 141,921,589 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X140,696,313 - 140,733,414 (-)NCBImm8
CeleraX129,393,202 - 129,433,781 (-)NCBICelera
Cytogenetic MapXF2NCBI
Amot
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X108,982,399 - 109,041,265 (-)NCBI
Rnor_6.0 EnsemblX116,751,230 - 116,792,864 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X116,751,231 - 116,810,238 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X116,890,173 - 116,949,168 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X33,018,434 - 33,062,515 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX108,364,426 - 108,423,279 (-)NCBICelera
Cytogenetic MapXq34NCBI
Amot
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554902,965,539 - 3,042,606 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554902,965,899 - 3,042,541 (+)NCBIChiLan1.0ChiLan1.0
AMOT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X112,362,633 - 112,428,216 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX112,362,633 - 112,428,216 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X101,907,032 - 101,973,052 (-)NCBIMhudiblu_PPA_v0panPan3
AMOT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X85,742,610 - 85,807,557 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX85,745,207 - 85,807,353 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX71,855,979 - 71,920,860 (-)NCBI
ROS_Cfam_1.0X87,438,375 - 87,503,383 (-)NCBI
UMICH_Zoey_3.1X84,902,240 - 84,967,182 (-)NCBI
UNSW_CanFamBas_1.0X86,570,310 - 86,635,268 (-)NCBI
UU_Cfam_GSD_1.0X86,409,254 - 86,474,116 (-)NCBI
Amot
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X84,996,607 - 85,063,784 (-)NCBI
SpeTri2.0NW_0049364992,594,190 - 2,661,307 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMOT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX92,582,046 - 92,647,857 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X92,581,995 - 92,647,872 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X106,946,878 - 107,012,750 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AMOT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X100,520,735 - 100,578,923 (-)NCBI
ChlSab1.1 EnsemblX100,520,733 - 100,578,998 (-)Ensembl
Amot
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248032,405,037 - 2,491,715 (+)NCBI

Position Markers
G31118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,018,307 - 112,018,452UniSTSGRCh37
Build 36X111,904,963 - 111,905,108RGDNCBI36
CeleraX112,502,938 - 112,503,083RGD
Cytogenetic MapXq23UniSTS
HuRefX101,645,292 - 101,645,437UniSTS
WI-13613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,018,125 - 112,018,249UniSTSGRCh37
Build 36X111,904,781 - 111,904,905RGDNCBI36
CeleraX112,502,756 - 112,502,880RGD
Cytogenetic MapXq23UniSTS
HuRefX101,645,110 - 101,645,234UniSTS
GeneMap99-GB4 RH MapX287.57UniSTS
Whitehead-RH MapX266.5UniSTS
NCBI RH MapX561.2UniSTS
AL035157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,062,291 - 112,062,411UniSTSGRCh37
Build 36X111,948,947 - 111,949,067RGDNCBI36
CeleraX112,546,922 - 112,547,042RGD
Cytogenetic MapXq23UniSTS
HuRefX101,688,727 - 101,688,847UniSTS
AMOT_3722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,017,705 - 112,018,569UniSTSGRCh37
Build 36X111,904,361 - 111,905,225RGDNCBI36
CeleraX112,502,336 - 112,503,200RGD
HuRefX101,644,690 - 101,645,554UniSTS
AFMa275zc9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,048,469 - 112,048,723UniSTSGRCh37
Build 36X111,935,125 - 111,935,379RGDNCBI36
CeleraX112,533,100 - 112,533,354RGD
Cytogenetic MapXq23UniSTS
HuRefX101,674,984 - 101,675,238UniSTS
Whitehead-RH MapX266.5UniSTS
NCBI RH MapX561.2UniSTS
G16015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,058,708 - 112,058,857UniSTSGRCh37
Build 36X111,945,364 - 111,945,513RGDNCBI36
CeleraX112,543,339 - 112,543,488RGD
Cytogenetic MapXq23UniSTS
HuRefX101,685,144 - 101,685,293UniSTS
AMOT  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,083,826 - 112,083,984UniSTSGRCh37
CeleraX112,568,455 - 112,568,613UniSTS
HuRefX101,710,012 - 101,710,170UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6042
Count of miRNA genes:1407
Interacting mature miRNAs:1877
Transcripts:ENST00000304758, ENST00000371958, ENST00000371959, ENST00000371962, ENST00000462114, ENST00000524145
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
Medium 141 84 229 81 57 15 974 558 2110 148 323 135 69 31 803 4
Low 2270 2145 1391 465 923 372 3375 1572 1617 252 1106 1409 99 1 1171 1985 1 1
Below cutoff 15 757 99 73 892 73 4 61 7 16 22 40 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF286598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY987378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000304758   ⟹   ENSP00000305557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX112,774,503 - 112,840,815 (-)Ensembl
RefSeq Acc Id: ENST00000371958   ⟹   ENSP00000361026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX112,780,355 - 112,822,584 (-)Ensembl
RefSeq Acc Id: ENST00000371959   ⟹   ENSP00000361027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX112,774,503 - 112,823,126 (-)Ensembl
RefSeq Acc Id: ENST00000371962   ⟹   ENSP00000361030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX112,778,512 - 112,822,536 (-)Ensembl
RefSeq Acc Id: ENST00000462114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX112,823,137 - 112,840,683 (-)Ensembl
RefSeq Acc Id: ENST00000524145   ⟹   ENSP00000429013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX112,778,567 - 112,825,128 (-)Ensembl
RefSeq Acc Id: NM_001113490   ⟹   NP_001106962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
GRCh37X112,018,105 - 112,084,136 (-)NCBI
HuRefX101,645,090 - 101,710,229 (-)ENTREZGENE
CHM1_1X111,929,234 - 111,977,479 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386998   ⟹   NP_001373927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
RefSeq Acc Id: NM_001386999   ⟹   NP_001373928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
RefSeq Acc Id: NM_133265   ⟹   NP_573572
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
GRCh37X112,018,105 - 112,084,136 (-)NCBI
Build 36X111,904,761 - 111,970,699 (-)NCBI Archive
HuRefX101,645,090 - 101,710,229 (-)ENTREZGENE
CHM1_1X111,929,234 - 111,995,169 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262090   ⟹   XP_005262147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,819,438 (-)NCBI
GRCh37X112,018,105 - 112,084,136 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029289   ⟹   XP_016884778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,945 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_573572   ⟸   NM_133265
- Peptide Label: isoform 2
- UniProtKB: Q4VCS5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001106962   ⟸   NM_001113490
- Peptide Label: isoform 1
- UniProtKB: Q4VCS5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262147   ⟸   XM_005262090
- Peptide Label: isoform X2
- UniProtKB: Q4VCS5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884778   ⟸   XM_017029289
- Peptide Label: isoform X2
- UniProtKB: Q4VCS5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361026   ⟸   ENST00000371958
RefSeq Acc Id: ENSP00000361027   ⟸   ENST00000371959
RefSeq Acc Id: ENSP00000361030   ⟸   ENST00000371962
RefSeq Acc Id: ENSP00000429013   ⟸   ENST00000524145
RefSeq Acc Id: ENSP00000305557   ⟸   ENST00000304758
RefSeq Acc Id: NP_001373927   ⟸   NM_001386998
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001373928   ⟸   NM_001386999
- Peptide Label: isoform 1
Protein Domains
Angiomotin_C

Promoters
RGD ID:6808480
Promoter ID:HG_KWN:67794
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000304758,   OTTHUMT00000057951
Position:
Human AssemblyChrPosition (strand)Source
Build 36X111,970,346 - 111,971,162 (-)MPROMDB
RGD ID:13627892
Promoter ID:EPDNEW_H29221
Type:initiation region
Name:AMOT_3
Description:angiomotin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29222  EPDNEW_H29223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,823,209 - 112,823,269EPDNEW
RGD ID:13627894
Promoter ID:EPDNEW_H29222
Type:initiation region
Name:AMOT_2
Description:angiomotin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29221  EPDNEW_H29223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,840,470 - 112,840,530EPDNEW
RGD ID:13627896
Promoter ID:EPDNEW_H29223
Type:initiation region
Name:AMOT_1
Description:angiomotin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29221  EPDNEW_H29222  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,840,830 - 112,840,890EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_133265.2(AMOT):c.-600C>T single nucleotide variant Lung cancer [RCV000102196] ChrX:112840619 [GRCh38]
ChrX:112083847 [GRCh37]
ChrX:Xq23
uncertain significance
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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 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 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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23(chrX:111797433-113018368)x8 copy number gain See cases [RCV000139829] ChrX:111797433..113018368 [GRCh38]
ChrX:111040661..112261596 [GRCh37]
ChrX:110927317..112148252 [NCBI36]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xq23(chrX:112652226-112920773)x0 copy number loss See cases [RCV000139785] ChrX:112652226..112920773 [GRCh38]
ChrX:111895454..112164001 [GRCh37]
ChrX:111782110..112050657 [NCBI36]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 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 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-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)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] 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)x3 copy number gain See cases [RCV000148141] 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 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [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
NM_001113490.1(AMOT):c.1926G>C (p.Gln642His) single nucleotide variant Cerebral visual impairment and intellectual disability [RCV000210410] ChrX:112791832 [GRCh38]
ChrX:112035060 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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 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 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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..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 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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq23(chrX:111555207-112320992)x3 copy number gain See cases [RCV000510493] ChrX:111555207..112320992 [GRCh37]
ChrX:Xq23
likely benign
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 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3 copy number gain See cases [RCV000510739] ChrX:111149921..117993284 [GRCh37]
ChrX:Xq23-24
likely pathogenic
GRCh37/hg19 Xq23(chrX:111549784-112337512)x3 copy number gain See cases [RCV000510946] ChrX:111549784..112337512 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
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 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
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 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq23(chrX:112022894-112055287)x2 copy number gain not provided [RCV000753709] ChrX:112022894..112055287 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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)x3 copy number gain not provided [RCV000753272] 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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Schizophrenia [RCV000754364] ChrX:110074915..115196481 [GRCh38]
ChrX:Xq23
likely 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
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 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001113490.1(AMOT):c.2957C>T (p.Pro986Leu) single nucleotide variant not provided [RCV000971710] ChrX:112779197 [GRCh38]
ChrX:112022425 [GRCh37]
ChrX:Xq23
likely benign
NM_001113490.1(AMOT):c.2738_2764del (p.Val913_Pro921del) deletion not provided [RCV000950503] ChrX:112779390..112779416 [GRCh38]
ChrX:112022618..112022644 [GRCh37]
ChrX:Xq23
benign
NM_001113490.1(AMOT):c.2695A>G (p.Thr899Ala) single nucleotide variant not provided [RCV000899942] ChrX:112779459 [GRCh38]
ChrX:112022687 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001113490.1(AMOT):c.948T>C (p.Ser316=) single nucleotide variant not provided [RCV000894180] ChrX:112815802 [GRCh38]
ChrX:112059030 [GRCh37]
ChrX:Xq23
benign
NM_001113490.1(AMOT):c.2946G>A (p.Pro982=) single nucleotide variant not provided [RCV000909738] ChrX:112779208 [GRCh38]
ChrX:112022436 [GRCh37]
ChrX:Xq23
benign
NM_133265.3(AMOT):c.1456_1476del (p.Ala486_Ala492del) deletion not provided [RCV000888038] ChrX:112779451..112779471 [GRCh38]
ChrX:112022679..112022699 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001113490.1(AMOT):c.1401A>G (p.Thr467=) single nucleotide variant not provided [RCV000896723] ChrX:112811385 [GRCh38]
ChrX:112054613 [GRCh37]
ChrX:Xq23
benign
NM_001113490.1(AMOT):c.2340G>A (p.Ser780=) single nucleotide variant not provided [RCV000958351] ChrX:112781019 [GRCh38]
ChrX:112024247 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq23(chrX:111950034-112040588)x3 copy number gain not provided [RCV000849074] ChrX:111950034..112040588 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001113490.1(AMOT):c.1614G>A (p.Ser538=) single nucleotide variant not provided [RCV000964272] ChrX:112809910 [GRCh38]
ChrX:112053138 [GRCh37]
ChrX:Xq23
benign
NM_001113490.1(AMOT):c.2501C>A (p.Ala834Asp) single nucleotide variant not provided [RCV000887645] ChrX:112779653 [GRCh38]
ChrX:112022881 [GRCh37]
ChrX:Xq23
likely benign
NM_001113490.1(AMOT):c.3095C>T (p.Ala1032Val) single nucleotide variant not provided [RCV000962803] ChrX:112779059 [GRCh38]
ChrX:112022287 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 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:17810 AgrOrtholog
COSMIC AMOT COSMIC
Ensembl Genes ENSG00000126016 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000305557 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361026 UniProtKB/TrEMBL
  ENSP00000361027 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361030 UniProtKB/TrEMBL
Ensembl Transcript ENST00000304758 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371958 UniProtKB/TrEMBL
  ENST00000371959 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371962 UniProtKB/TrEMBL
GTEx ENSG00000126016 GTEx
HGNC ID HGNC:17810 ENTREZGENE
Human Proteome Map AMOT Human Proteome Map
InterPro Angiomotin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Angiomotin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:154796 UniProtKB/Swiss-Prot
NCBI Gene 154796 ENTREZGENE
OMIM 300410 OMIM
Pfam Angiomotin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24773 PharmGKB
PRINTS ANGIOMOTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2BDD9_HUMAN UniProtKB/TrEMBL
  A6NP16_HUMAN UniProtKB/TrEMBL
  AMOT_HUMAN UniProtKB/Swiss-Prot
  E7ERM3_HUMAN UniProtKB/TrEMBL
  Q4VCS5 ENTREZGENE
UniProt Secondary Q504X5 UniProtKB/Swiss-Prot
  Q9HD27 UniProtKB/Swiss-Prot
  Q9UPT1 UniProtKB/Swiss-Prot