MBNL3 (muscleblind like splicing regulator 3) - Rat Genome Database

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Gene: MBNL3 (muscleblind like splicing regulator 3) Homo sapiens
Analyze
Symbol: MBNL3
Name: muscleblind like splicing regulator 3
RGD ID: 1603984
HGNC Page HGNC
Description: Exhibits RNA binding activity. Involved in regulation of RNA splicing. Predicted to localize to cytoplasm and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHCR; Cys3His CCG1-required protein; FLJ11316; FLJ97142; MBLX; MBLX39; MBXL; muscleblind-like 3; muscleblind-like protein 3; muscleblind-like splicing regulator 3; muscleblind-like X-linked protein
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 EnsemblX132,369,317 - 132,489,968 (-)EnsemblGRCh38hg38GRCh38
GRCh38X132,369,320 - 132,490,035 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,503,348 - 131,624,063 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X131,339,858 - 131,401,399 (-)NCBINCBI36hg18NCBI36
CeleraX131,889,747 - 132,010,400 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX120,905,795 - 121,027,169 (-)NCBIHuRef
CHM1_1X131,414,910 - 131,535,546 (-)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
cytoplasm  (IBA)
nucleoplasm  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10970838   PMID:11929853   PMID:12297108   PMID:12477932   PMID:14702039   PMID:15257297   PMID:15489334   PMID:15772651   PMID:16344560   PMID:17102799   PMID:18029348   PMID:19095965  
PMID:19274049   PMID:21873635   PMID:22658674   PMID:22681889   PMID:23602568   PMID:25416956   PMID:26186194   PMID:28514442   PMID:28553938   PMID:32001790   PMID:32296183  


Genomics

Comparative Map Data
MBNL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX132,369,317 - 132,489,968 (-)EnsemblGRCh38hg38GRCh38
GRCh38X132,369,320 - 132,490,035 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,503,348 - 131,624,063 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X131,339,858 - 131,401,399 (-)NCBINCBI36hg18NCBI36
CeleraX131,889,747 - 132,010,400 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX120,905,795 - 121,027,169 (-)NCBIHuRef
CHM1_1X131,414,910 - 131,535,546 (-)NCBICHM1_1
Mbnl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X50,202,371 - 50,294,867 (-)NCBIGRCm39mm39
GRCm39 EnsemblX50,206,146 - 50,295,409 (-)Ensembl
GRCm38X51,113,494 - 51,205,990 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX51,117,269 - 51,206,532 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X48,466,671 - 48,559,009 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X47,358,121 - 47,450,459 (-)NCBImm8
CeleraX38,533,098 - 38,627,627 (-)NCBICelera
Cytogenetic MapXA5NCBI
Mbnl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X130,641,942 - 130,737,179 (-)NCBI
Rnor_6.0 EnsemblX138,384,912 - 138,435,391 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X138,378,674 - 138,473,365 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X138,432,133 - 138,526,768 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X137,891,633 - 137,941,868 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX129,559,433 - 129,609,914 (-)NCBICelera
Cytogenetic MapXq36NCBI
Mbnl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554732,490,011 - 2,547,495 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554732,449,543 - 2,555,445 (+)NCBIChiLan1.0ChiLan1.0
MBNL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X131,808,495 - 131,879,019 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX131,816,266 - 131,879,035 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X121,503,423 - 121,621,124 (-)NCBIMhudiblu_PPA_v0panPan3
MBNL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X103,257,410 - 103,370,903 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX103,264,542 - 103,327,481 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX89,430,395 - 89,543,885 (-)NCBI
ROS_Cfam_1.0X105,117,479 - 105,230,994 (-)NCBI
UMICH_Zoey_3.1X102,528,383 - 102,641,864 (-)NCBI
UNSW_CanFamBas_1.0X104,403,921 - 104,517,400 (-)NCBI
UU_Cfam_GSD_1.0X104,175,327 - 104,289,684 (-)NCBI
Mbnl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X101,424,765 - 101,541,168 (-)NCBI
SpeTri2.0NW_0049366912,460,409 - 2,526,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MBNL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX108,489,557 - 108,612,875 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X108,488,224 - 108,612,896 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X124,481,415 - 124,648,237 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MBNL3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X107,516,673 - 107,634,106 (-)NCBI
ChlSab1.1 EnsemblX107,525,991 - 107,585,065 (-)Ensembl
Mbnl3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479712,039,406 - 12,151,456 (-)NCBI

Position Markers
AL032596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,576,347 - 131,576,533UniSTSGRCh37
Build 36X131,404,028 - 131,404,214RGDNCBI36
CeleraX131,962,751 - 131,962,937RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,979,717 - 120,979,903UniSTS
RH102788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,506,087 - 131,506,230UniSTSGRCh37
Build 36X131,333,768 - 131,333,911RGDNCBI36
CeleraX131,892,492 - 131,892,635RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,908,537 - 120,908,680UniSTS
GeneMap99-GB4 RH MapX315.59UniSTS
RH103745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,572,414 - 131,572,592UniSTSGRCh37
Build 36X131,400,095 - 131,400,273RGDNCBI36
CeleraX131,958,818 - 131,958,996RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,975,374 - 120,975,552UniSTS
GeneMap99-GB4 RH MapX315.59UniSTS
SHGC-78081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,594,066 - 131,594,406UniSTSGRCh37
Build 36X131,421,747 - 131,422,087RGDNCBI36
CeleraX131,980,469 - 131,980,809RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,997,237 - 120,997,577UniSTS
A004B40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,565,425 - 131,565,563UniSTSGRCh37
Build 36X131,393,106 - 131,393,244RGDNCBI36
CeleraX131,951,829 - 131,951,967RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,968,396 - 120,968,534UniSTS
GeneMap99-GB4 RH MapX313.82UniSTS
STS-H98521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,570,794 - 131,570,951UniSTSGRCh37
Build 36X131,398,475 - 131,398,632RGDNCBI36
CeleraX131,957,198 - 131,957,355RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,973,755 - 120,973,913UniSTS
GeneMap99-GB4 RH MapX315.59UniSTS
SGC34596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,513,543 - 131,513,692UniSTSGRCh37
Build 36X131,341,224 - 131,341,373RGDNCBI36
CeleraX131,899,948 - 131,900,097RGD
Cytogenetic MapXq26.2UniSTS
GeneMap99-GB4 RH MapX313.72UniSTS
Whitehead-RH MapX288.8UniSTS
DXS9775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,503,442 - 131,503,573UniSTSGRCh37
Build 36X131,331,123 - 131,331,254RGDNCBI36
CeleraX131,889,847 - 131,889,978RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,905,895 - 120,906,026UniSTS
GeneMap99-G3 RH MapX4039.0UniSTS
RH36548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,510,867 - 131,511,108UniSTSGRCh37
Build 36X131,338,548 - 131,338,789RGDNCBI36
CeleraX131,897,272 - 131,897,513RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,913,304 - 120,913,545UniSTS
GeneMap99-GB4 RH MapX315.91UniSTS
NCBI RH MapX674.7UniSTS
RH36394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,519,890 - 131,520,048UniSTSGRCh37
Build 36X131,347,571 - 131,347,729RGDNCBI36
CeleraX131,906,295 - 131,906,452RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,922,615 - 120,922,772UniSTS
GeneMap99-GB4 RH MapX315.91UniSTS
NCBI RH MapX674.7UniSTS
RH69876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,522,036 - 131,522,205UniSTSGRCh37
Build 36X131,349,717 - 131,349,886RGDNCBI36
CeleraX131,908,440 - 131,908,609RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,924,869 - 120,925,038UniSTS
GeneMap99-GB4 RH MapX315.59UniSTS
RH12514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,566,671 - 131,566,860UniSTSGRCh37
Build 36X131,394,352 - 131,394,541RGDNCBI36
CeleraX131,953,075 - 131,953,264RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,969,642 - 120,969,831UniSTS
GeneMap99-GB4 RH MapX315.59UniSTS
NCBI RH MapX673.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:21968
Count of miRNA genes:1497
Interacting mature miRNAs:2098
Transcripts:ENST00000370839, ENST00000370844, ENST00000370849, ENST00000370853, ENST00000370857, ENST00000394311, ENST00000421707, ENST00000436215, ENST00000442191, ENST00000465964, ENST00000473364, ENST00000538204
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 93 236 332 256 791 257 59 27 24 72 465 97 1 26 2 3
Low 2126 2428 1381 362 1152 203 3631 1292 2036 332 968 1481 168 1177 2127 2
Below cutoff 210 321 6 3 5 3 665 873 1646 11 19 19 1 1 659

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB077698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB077699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF467070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF491305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI633721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ427918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ427919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW665447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY072692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY372211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU569439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA832176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB023330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC380677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370839   ⟹   ENSP00000359876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,379,204 - 132,439,690 (-)Ensembl
RefSeq Acc Id: ENST00000370844   ⟹   ENSP00000359881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,379,204 - 132,489,968 (-)Ensembl
RefSeq Acc Id: ENST00000370849   ⟹   ENSP00000359886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,379,203 - 132,413,575 (-)Ensembl
RefSeq Acc Id: ENST00000370853   ⟹   ENSP00000359890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,378,149 - 132,439,690 (-)Ensembl
RefSeq Acc Id: ENST00000370857   ⟹   ENSP00000359894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,372,001 - 132,439,677 (-)Ensembl
RefSeq Acc Id: ENST00000394311   ⟹   ENSP00000377848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,369,317 - 132,413,608 (-)Ensembl
RefSeq Acc Id: ENST00000421707   ⟹   ENSP00000402128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,384,663 - 132,489,015 (-)Ensembl
RefSeq Acc Id: ENST00000436215   ⟹   ENSP00000406014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,382,216 - 132,489,866 (-)Ensembl
RefSeq Acc Id: ENST00000442191   ⟹   ENSP00000412065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,379,308 - 132,390,960 (-)Ensembl
RefSeq Acc Id: ENST00000465964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,379,515 - 132,386,802 (-)Ensembl
RefSeq Acc Id: ENST00000473364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,390,854 - 132,411,382 (-)Ensembl
RefSeq Acc Id: ENST00000538204   ⟹   ENSP00000439618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,369,317 - 132,413,575 (-)Ensembl
RefSeq Acc Id: NM_001170701   ⟹   NP_001164172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,004 - 132,413,608 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
CeleraX131,889,747 - 132,010,400 (-)RGD
HuRefX120,905,795 - 121,027,169 (-)RGD
CHM1_1X131,414,910 - 131,459,166 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170702   ⟹   NP_001164173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,004 - 132,413,608 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
CeleraX131,889,747 - 132,010,400 (-)RGD
HuRefX120,905,795 - 121,027,169 (-)RGD
CHM1_1X131,414,910 - 131,459,166 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170703   ⟹   NP_001164174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,413,608 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
CeleraX131,889,747 - 132,010,400 (-)RGD
HuRefX120,905,795 - 121,027,169 (-)RGD
CHM1_1X131,414,910 - 131,459,199 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170704   ⟹   NP_001164175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
CeleraX131,889,747 - 132,010,400 (-)RGD
HuRefX120,905,795 - 121,027,169 (-)RGD
CHM1_1X131,414,910 - 131,535,546 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386889   ⟹   NP_001373818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386891   ⟹   NP_001373820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386892   ⟹   NP_001373821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386894   ⟹   NP_001373823
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386896   ⟹   NP_001373825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386897   ⟹   NP_001373826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386898   ⟹   NP_001373827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386899   ⟹   NP_001373828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386900   ⟹   NP_001373829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,413,608 (-)NCBI
RefSeq Acc Id: NM_001386901   ⟹   NP_001373830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386902   ⟹   NP_001373831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386907   ⟹   NP_001373836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386909   ⟹   NP_001373838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386910   ⟹   NP_001373839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386911   ⟹   NP_001373840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386912   ⟹   NP_001373841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386913   ⟹   NP_001373842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386914   ⟹   NP_001373843
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
RefSeq Acc Id: NM_001386915   ⟹   NP_001373844
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386916   ⟹   NP_001373845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386917   ⟹   NP_001373846
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_001386918   ⟹   NP_001373847
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,490,035 (-)NCBI
RefSeq Acc Id: NM_018388   ⟹   NP_060858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,489,038 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
Build 36X131,339,858 - 131,401,399 (-)NCBI Archive
CeleraX131,889,747 - 132,010,400 (-)RGD
HuRefX120,905,795 - 121,027,169 (-)RGD
CHM1_1X131,414,910 - 131,485,281 (-)NCBI
Sequence:
RefSeq Acc Id: NM_133486   ⟹   NP_597846
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,369,320 - 132,440,259 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
Build 36X131,340,913 - 131,401,399 (-)NCBI Archive
CeleraX131,889,747 - 132,010,400 (-)RGD
HuRefX120,905,795 - 121,027,169 (-)RGD
CHM1_1X131,414,910 - 131,485,281 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262436   ⟹   XP_005262493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,412,146 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262437   ⟹   XP_005262494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,413,576 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262438   ⟹   XP_005262495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,413,576 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262440   ⟹   XP_005262497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,489,038 (-)NCBI
GRCh37X131,503,342 - 131,624,063 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531364   ⟹   XP_011529666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,405,587 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029633   ⟹   XP_016885122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,489,038 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029638   ⟹   XP_016885127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,490,019 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452401   ⟹   XP_024308169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,489,038 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452402   ⟹   XP_024308170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,372,002 - 132,489,038 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452403   ⟹   XP_024308171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,379,193 - 132,411,384 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001164172 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164173 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164174 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164175 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373818 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373820 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373821 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373823 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373825 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373826 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373827 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373831 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373836 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373838 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373839 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373840 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373841 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373842 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373843 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373844 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373845 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373846 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373847 (Get FASTA)   NCBI Sequence Viewer  
  NP_060858 (Get FASTA)   NCBI Sequence Viewer  
  NP_597846 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262493 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262494 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262495 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262497 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529666 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885122 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885127 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308169 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308170 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308171 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH42090 (Get FASTA)   NCBI Sequence Viewer  
  AAH74775 (Get FASTA)   NCBI Sequence Viewer  
  AAH74776 (Get FASTA)   NCBI Sequence Viewer  
  AAL65661 (Get FASTA)   NCBI Sequence Viewer  
  AAL87670 (Get FASTA)   NCBI Sequence Viewer  
  AAM09533 (Get FASTA)   NCBI Sequence Viewer  
  AAQ75759 (Get FASTA)   NCBI Sequence Viewer  
  BAA92124 (Get FASTA)   NCBI Sequence Viewer  
  BAB85648 (Get FASTA)   NCBI Sequence Viewer  
  BAB85649 (Get FASTA)   NCBI Sequence Viewer  
  BAG62014 (Get FASTA)   NCBI Sequence Viewer  
  CAB63751 (Get FASTA)   NCBI Sequence Viewer  
  CAD20869 (Get FASTA)   NCBI Sequence Viewer  
  CAD20870 (Get FASTA)   NCBI Sequence Viewer  
  EAX11778 (Get FASTA)   NCBI Sequence Viewer  
  EAX11779 (Get FASTA)   NCBI Sequence Viewer  
  EAX11780 (Get FASTA)   NCBI Sequence Viewer  
  Q9NUK0 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001164175   ⟸   NM_001170704
- Peptide Label: isoform 5
- UniProtKB: Q9NUK0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060858   ⟸   NM_018388
- Peptide Label: isoform 1
- UniProtKB: Q9NUK0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_597846   ⟸   NM_133486
- Peptide Label: isoform 2
- UniProtKB: Q9NUK0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164174   ⟸   NM_001170703
- Peptide Label: isoform 5
- UniProtKB: Q9NUK0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164172   ⟸   NM_001170701
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001164173   ⟸   NM_001170702
- Peptide Label: isoform 10
- Sequence:
RefSeq Acc Id: XP_005262497   ⟸   XM_005262440
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_005262495   ⟸   XM_005262438
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_005262494   ⟸   XM_005262437
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005262493   ⟸   XM_005262436
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011529666   ⟸   XM_011531364
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016885127   ⟸   XM_017029638
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016885122   ⟸   XM_017029633
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308170   ⟸   XM_024452402
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024308169   ⟸   XM_024452401
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308171   ⟸   XM_024452403
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000359881   ⟸   ENST00000370844
RefSeq Acc Id: ENSP00000359886   ⟸   ENST00000370849
RefSeq Acc Id: ENSP00000359890   ⟸   ENST00000370853
RefSeq Acc Id: ENSP00000359894   ⟸   ENST00000370857
RefSeq Acc Id: ENSP00000359876   ⟸   ENST00000370839
RefSeq Acc Id: ENSP00000412065   ⟸   ENST00000442191
RefSeq Acc Id: ENSP00000439618   ⟸   ENST00000538204
RefSeq Acc Id: ENSP00000377848   ⟸   ENST00000394311
RefSeq Acc Id: ENSP00000402128   ⟸   ENST00000421707
RefSeq Acc Id: ENSP00000406014   ⟸   ENST00000436215
RefSeq Acc Id: NP_001373845   ⟸   NM_001386916
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001373847   ⟸   NM_001386918
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001373846   ⟸   NM_001386917
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001373844   ⟸   NM_001386915
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001373838   ⟸   NM_001386909
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001373839   ⟸   NM_001386910
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001373830   ⟸   NM_001386901
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001373827   ⟸   NM_001386898
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001373823   ⟸   NM_001386894
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001373821   ⟸   NM_001386892
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001373843   ⟸   NM_001386914
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001373840   ⟸   NM_001386911
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001373831   ⟸   NM_001386902
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001373841   ⟸   NM_001386912
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001373828   ⟸   NM_001386899
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001373818   ⟸   NM_001386889
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001373820   ⟸   NM_001386891
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001373825   ⟸   NM_001386896
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001373826   ⟸   NM_001386897
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001373842   ⟸   NM_001386913
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001373836   ⟸   NM_001386907
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001373829   ⟸   NM_001386900
- Peptide Label: isoform 8
Protein Domains
C3H1-type

Promoters
RGD ID:13628124
Promoter ID:EPDNEW_H29337
Type:initiation region
Name:MBNL3_3
Description:muscleblind like splicing regulator 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29338  EPDNEW_H29339  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,413,607 - 132,413,667EPDNEW
RGD ID:13628126
Promoter ID:EPDNEW_H29338
Type:initiation region
Name:MBNL3_1
Description:muscleblind like splicing regulator 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29337  EPDNEW_H29339  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,488,249 - 132,488,309EPDNEW
RGD ID:13628128
Promoter ID:EPDNEW_H29339
Type:initiation region
Name:MBNL3_2
Description:muscleblind like splicing regulator 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29337  EPDNEW_H29338  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,490,035 - 132,490,095EPDNEW

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:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
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 Xq26.2(chrX:131679218-132563491)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054249]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054249]|See cases [RCV000054249] ChrX:131679218..132563491 [GRCh38]
ChrX:130813232..131697519 [GRCh37]
ChrX:130640913..131525200 [NCBI36]
ChrX:Xq26.2
uncertain significance
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)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-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
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0 copy number loss See cases [RCV000239967] ChrX:129760788..132675352 [GRCh37]
ChrX:Xq26.1-26.2
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129796796-132686500)x0 copy number loss See cases [RCV000240002] ChrX:129796796..132686500 [GRCh37]
ChrX:Xq26.1-26.2
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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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: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 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 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 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:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 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 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
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 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq26.2(chrX:130818298-131542075)x3 copy number gain not provided [RCV000753777] ChrX:130818298..131542075 [GRCh37]
ChrX:Xq26.2
likely 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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_018388.3(MBNL3):c.535-8G>A single nucleotide variant not provided [RCV000950884] ChrX:132391091 [GRCh38]
ChrX:131525119 [GRCh37]
ChrX:Xq26.2
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
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 Xq26.1-26.2(chrX:130280298-132670366) copy number loss Infantile nystagmus, X-linked [RCV000767808] ChrX:130280298..132670366 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xq26.2(chrX:130807137-131596401)x2 copy number gain not provided [RCV000847158] ChrX:130807137..131596401 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 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:20564 AgrOrtholog
COSMIC MBNL3 COSMIC
Ensembl Genes ENSG00000076770 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359876 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359881 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359886 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359890 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359894 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000377848 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402128 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000406014 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000412065 UniProtKB/TrEMBL
  ENSP00000439618 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370839 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370844 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370849 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370853 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370857 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000394311 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000421707 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000436215 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000442191 UniProtKB/TrEMBL
  ENST00000538204 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000076770 GTEx
HGNC ID HGNC:20564 ENTREZGENE
Human Proteome Map MBNL3 Human Proteome Map
InterPro Znf-CCCH_4 UniProtKB/TrEMBL
  Znf_CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55796 UniProtKB/Swiss-Prot
NCBI Gene 55796 ENTREZGENE
OMIM 300413 OMIM
Pfam zf-CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CCCH_4 UniProtKB/TrEMBL
PharmGKB PA134992936 PharmGKB
PROSITE ZF_C3H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C3H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AKI2_HUMAN UniProtKB/TrEMBL
  B1AKI4_HUMAN UniProtKB/TrEMBL
  B1AKI5_HUMAN UniProtKB/TrEMBL
  B1AKI6_HUMAN UniProtKB/TrEMBL
  MBNL3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5JXN8 UniProtKB/Swiss-Prot
  Q5JXN9 UniProtKB/Swiss-Prot
  Q5JXP4 UniProtKB/Swiss-Prot
  Q6UDQ1 UniProtKB/Swiss-Prot
  Q8IUR4 UniProtKB/Swiss-Prot
  Q8TAD9 UniProtKB/Swiss-Prot
  Q8TAF4 UniProtKB/Swiss-Prot
  Q9H0Z7 UniProtKB/Swiss-Prot
  Q9UF37 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 MBNL3  muscleblind like splicing regulator 3    muscleblind-like splicing regulator 3  Symbol and/or name change 5135510 APPROVED
2012-03-01 MBNL3  muscleblind-like splicing regulator 3  MBNL3  muscleblind-like 3 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-09-01 MBNL3  muscleblind-like 3 (Drosophila)  MBNL3  muscleblind-like 3 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-07-27 MBNL3  muscleblind-like 3 (Drosophila)  MBNL3  muscleblind-like 3 (Drosophila)  Symbol and/or name change 5135510 APPROVED