MSL3 (MSL complex subunit 3) - Rat Genome Database

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Gene: MSL3 (MSL complex subunit 3) Homo sapiens
Analyze
Symbol: MSL3
Name: MSL complex subunit 3
RGD ID: 1605696
HGNC Page HGNC
Description: Exhibits DNA binding activity; histone acetyltransferase activity (H4-K16 specific); and methylated histone binding activity. Involved in histone H4-K16 acetylation and regulation of transcription, DNA-templated. Localizes to MSL complex. Implicated in Basilicata-Akhtar syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp586J1822; drosophila MSL3-like 1; male-specific lethal 3 homolog; male-specific lethal 3 homolog (Drosophila); male-specific lethal 3-like 1; male-specific lethal-3 homolog 1; male-specific lethal-3 protein-like 1; MRSXBA; MRXS36; MRXSBA; MSL3-like 1; MSL3L1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100499191   LOC100499192   MSL3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX11,758,159 - 11,775,772 (+)EnsemblGRCh38hg38GRCh38
GRCh38X11,758,159 - 11,775,772 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,776,278 - 11,793,891 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,686,199 - 11,703,793 (+)NCBINCBI36hg18NCBI36
CeleraX15,904,870 - 15,922,463 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX9,555,123 - 9,572,080 (+)NCBIHuRef
CHM1_1X11,806,915 - 11,824,468 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10395802   PMID:10908644   PMID:12477932   PMID:15302935   PMID:15489334   PMID:16227571   PMID:16344560   PMID:20018852   PMID:20360068   PMID:20479123   PMID:20657587   PMID:20943666  
PMID:21217699   PMID:21832049   PMID:21873635   PMID:22094256   PMID:23602568   PMID:23667531   PMID:24837678   PMID:25281560   PMID:26186194   PMID:26496610   PMID:28514442   PMID:28986522  
PMID:29509190   PMID:30224647   PMID:30804502   PMID:32814053  


Genomics

Comparative Map Data
MSL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX11,758,159 - 11,775,772 (+)EnsemblGRCh38hg38GRCh38
GRCh38X11,758,159 - 11,775,772 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,776,278 - 11,793,891 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,686,199 - 11,703,793 (+)NCBINCBI36hg18NCBI36
CeleraX15,904,870 - 15,922,463 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX9,555,123 - 9,572,080 (+)NCBIHuRef
CHM1_1X11,806,915 - 11,824,468 (+)NCBICHM1_1
Msl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X167,434,263 - 167,457,347 (-)NCBIGRCm39mm39
GRCm39 EnsemblX167,437,113 - 167,456,894 (-)Ensembl
GRCm38X168,651,267 - 168,674,354 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX168,654,117 - 168,673,898 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X165,092,049 - 165,111,834 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X163,998,222 - 164,018,007 (-)NCBImm8
CeleraX151,820,966 - 151,840,717 (-)NCBICelera
Cytogenetic MapXF5NCBI
Msl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X25,638,029 - 25,655,698 (+)NCBI
Rnor_6.0 EnsemblX27,015,884 - 27,033,555 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X27,015,826 - 27,033,562 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X27,420,494 - 27,438,244 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X46,330,790 - 46,348,467 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX26,048,467 - 26,066,050 (+)NCBICelera
Cytogenetic MapXq13NCBI
Msl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555441,523,310 - 1,541,019 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555441,523,369 - 1,541,012 (-)NCBIChiLan1.0ChiLan1.0
MSL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X11,676,301 - 11,693,474 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX11,672,109 - 11,693,468 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X4,385,861 - 4,403,467 (+)NCBIMhudiblu_PPA_v0panPan3
MSL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X8,294,797 - 8,311,142 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX8,294,802 - 8,310,751 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX8,251,506 - 8,267,864 (+)NCBI
ROS_Cfam_1.0X8,247,326 - 8,263,668 (+)NCBI
UMICH_Zoey_3.1X8,231,197 - 8,247,533 (+)NCBI
UNSW_CanFamBas_1.0X8,267,557 - 8,283,904 (+)NCBI
UU_Cfam_GSD_1.0X8,263,471 - 8,279,825 (+)NCBI
Msl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X1,572,031 - 1,587,002 (+)NCBI
SpeTri2.0NW_0049364701,572,037 - 1,587,002 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX8,518,835 - 8,535,249 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X8,519,366 - 8,535,249 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X9,292,676 - 9,308,561 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MSL3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X10,259,700 - 10,292,097 (+)NCBI
ChlSab1.1 EnsemblX10,259,711 - 10,277,817 (+)Ensembl
Msl3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248822,594,453 - 2,614,076 (-)NCBI

Position Markers
RH77758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,785,976 - 11,786,088UniSTSGRCh37
Build 36X11,695,897 - 11,696,009RGDNCBI36
CeleraX15,914,567 - 15,914,679RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,564,348 - 9,564,460UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
G22307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,785,943 - 11,786,072UniSTSGRCh37
Build 36X11,695,864 - 11,695,993RGDNCBI36
CeleraX15,914,534 - 15,914,663RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,564,315 - 9,564,444UniSTS
DXS6995E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,793,622 - 11,793,727UniSTSGRCh37
Build 36X11,703,543 - 11,703,648RGDNCBI36
CeleraX15,922,213 - 15,922,318RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,571,830 - 9,571,935UniSTS
SHGC-32403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,793,711 - 11,793,860UniSTSGRCh37
GRCh372234,774,098 - 234,774,247UniSTSGRCh37
Build 36X11,703,632 - 11,703,781RGDNCBI36
CeleraX15,922,302 - 15,922,451RGD
Celera2228,494,520 - 228,494,669UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRef2226,573,694 - 226,573,843UniSTS
HuRefX9,571,919 - 9,572,068UniSTS
Whitehead-RH MapX2.5UniSTS
GeneMap99-G3 RH MapX5.0UniSTS
REN45587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,858,641 - 138,858,861UniSTSGRCh37
GRCh372234,775,861 - 234,776,091UniSTSGRCh37
Build 362234,440,600 - 234,440,830RGDNCBI36
Celera2228,496,283 - 228,496,513RGD
Celera7133,596,800 - 133,597,020UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic MapXp22.3UniSTS
HuRef7133,168,334 - 133,168,554UniSTS
HuRef2226,575,457 - 226,575,687UniSTS
CRA_TCAGchr7v27138,203,209 - 138,203,429UniSTS
MARC_17111-17112:1020872220:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,777,931 - 11,778,568UniSTSGRCh37
Build 36X11,687,852 - 11,688,489RGDNCBI36
CeleraX15,906,523 - 15,907,160RGD
HuRefX9,556,303 - 9,556,940UniSTS
stSG620220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,775,089 - 234,776,088UniSTSGRCh37
Build 362234,439,828 - 234,440,827RGDNCBI36
Celera2228,495,511 - 228,496,510RGD
Cytogenetic MapXp22.3UniSTS
HuRef2226,574,685 - 226,575,684UniSTS
MSL3L1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,775,555 - 234,775,683UniSTSGRCh37
GRCh377138,858,349 - 138,858,477UniSTSGRCh37
Celera2228,495,977 - 228,496,105UniSTS
Celera7133,596,508 - 133,596,636UniSTS
HuRef7133,168,042 - 133,168,170UniSTS
HuRef2226,575,151 - 226,575,279UniSTS
CRA_TCAGchr7v27138,202,917 - 138,203,045UniSTS
RH27237  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map2q37.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7F1hsa-let-7f-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIRLET7F2hsa-let-7f-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:5208
Count of miRNA genes:1448
Interacting mature miRNAs:1926
Transcripts:ENST00000312196, ENST00000337339, ENST00000361672, ENST00000380691, ENST00000380692, ENST00000380693, ENST00000398527, ENST00000421368, ENST00000467141, ENST00000468149, ENST00000473380, ENST00000473806, ENST00000476743, ENST00000478462, ENST00000482871, ENST00000483645, ENST00000494268
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
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 pharyngeal arch
High
Medium 1717 1973 939 161 1808 59 3542 1160 1832 175 1331 1516 113 1090 2212 1
Low 717 1012 784 461 142 405 813 1033 1878 243 117 92 59 114 576 3
Below cutoff 1 1 1 1 1 16 1 7 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_078628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_078629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI091178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT002798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA172776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA788603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA961602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB240082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC395802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000312196   ⟹   ENSP00000312244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,237 - 11,775,772 (+)Ensembl
RefSeq Acc Id: ENST00000337339   ⟹   ENSP00000338078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,203 - 11,767,977 (+)Ensembl
RefSeq Acc Id: ENST00000361672   ⟹   ENSP00000354562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,159 - 11,775,747 (+)Ensembl
RefSeq Acc Id: ENST00000380691   ⟹   ENSP00000370067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,762,888 - 11,772,168 (+)Ensembl
RefSeq Acc Id: ENST00000380692   ⟹   ENSP00000370068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,643 - 11,763,810 (+)Ensembl
RefSeq Acc Id: ENST00000380693   ⟹   ENSP00000370069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,634 - 11,775,726 (+)Ensembl
RefSeq Acc Id: ENST00000398527   ⟹   ENSP00000381538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,556 - 11,775,726 (+)Ensembl
RefSeq Acc Id: ENST00000421368   ⟹   ENSP00000401809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,658 - 11,763,823 (+)Ensembl
RefSeq Acc Id: ENST00000467141   ⟹   ENSP00000497278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,538 - 11,769,097 (+)Ensembl
RefSeq Acc Id: ENST00000468149   ⟹   ENSP00000418673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,253 - 11,775,231 (+)Ensembl
RefSeq Acc Id: ENST00000473380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,402 - 11,768,999 (+)Ensembl
RefSeq Acc Id: ENST00000476743   ⟹   ENSP00000419976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,582 - 11,762,219 (+)Ensembl
RefSeq Acc Id: ENST00000478462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,641 - 11,761,054 (+)Ensembl
RefSeq Acc Id: ENST00000482871   ⟹   ENSP00000498064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,760,043 - 11,775,677 (+)Ensembl
RefSeq Acc Id: ENST00000483645   ⟹   ENSP00000498026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,760,186 - 11,762,905 (+)Ensembl
RefSeq Acc Id: ENST00000494268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,760,222 - 11,764,251 (+)Ensembl
RefSeq Acc Id: ENST00000647599   ⟹   ENSP00000497600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,538 - 11,775,753 (+)Ensembl
RefSeq Acc Id: ENST00000647701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,250 - 11,766,267 (+)Ensembl
RefSeq Acc Id: ENST00000647839   ⟹   ENSP00000497936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,538 - 11,775,740 (+)Ensembl
RefSeq Acc Id: ENST00000647857   ⟹   ENSP00000497753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,250 - 11,769,102 (+)Ensembl
RefSeq Acc Id: ENST00000647869   ⟹   ENSP00000497615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,205 - 11,775,628 (+)Ensembl
RefSeq Acc Id: ENST00000647985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,760,910 - 11,775,735 (+)Ensembl
RefSeq Acc Id: ENST00000648013   ⟹   ENSP00000497518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,760,048 - 11,775,665 (+)Ensembl
RefSeq Acc Id: ENST00000648120   ⟹   ENSP00000496997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,631 - 11,759,320 (+)Ensembl
RefSeq Acc Id: ENST00000648207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,645 - 11,775,640 (+)Ensembl
RefSeq Acc Id: ENST00000648287   ⟹   ENSP00000496861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,538 - 11,775,750 (+)Ensembl
RefSeq Acc Id: ENST00000648545   ⟹   ENSP00000498069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,538 - 11,767,977 (+)Ensembl
RefSeq Acc Id: ENST00000648614   ⟹   ENSP00000497799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,772 - 11,767,960 (+)Ensembl
RefSeq Acc Id: ENST00000648656   ⟹   ENSP00000497779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,538 - 11,767,977 (+)Ensembl
RefSeq Acc Id: ENST00000648692   ⟹   ENSP00000496974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,538 - 11,769,102 (+)Ensembl
RefSeq Acc Id: ENST00000648889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,250 - 11,768,916 (+)Ensembl
RefSeq Acc Id: ENST00000648918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,258 - 11,767,876 (+)Ensembl
RefSeq Acc Id: ENST00000649078   ⟹   ENSP00000498017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,424 - 11,775,753 (+)Ensembl
RefSeq Acc Id: ENST00000649130   ⟹   ENSP00000497949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,268 - 11,775,640 (+)Ensembl
RefSeq Acc Id: ENST00000649271   ⟹   ENSP00000496967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,760,093 - 11,775,731 (+)Ensembl
RefSeq Acc Id: ENST00000649308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,623 - 11,775,736 (+)Ensembl
RefSeq Acc Id: ENST00000649420   ⟹   ENSP00000498117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,598 - 11,767,976 (+)Ensembl
RefSeq Acc Id: ENST00000649602   ⟹   ENSP00000498168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,604 - 11,775,736 (+)Ensembl
RefSeq Acc Id: ENST00000649649   ⟹   ENSP00000497137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,634 - 11,775,720 (+)Ensembl
RefSeq Acc Id: ENST00000649684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,634 - 11,775,593 (+)Ensembl
RefSeq Acc Id: ENST00000649685   ⟹   ENSP00000497496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,634 - 11,775,407 (+)Ensembl
RefSeq Acc Id: ENST00000649785   ⟹   ENSP00000496803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,633 - 11,775,753 (+)Ensembl
RefSeq Acc Id: ENST00000649797   ⟹   ENSP00000498062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,687 - 11,767,979 (+)Ensembl
RefSeq Acc Id: ENST00000649851   ⟹   ENSP00000497132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,657 - 11,767,950 (+)Ensembl
RefSeq Acc Id: ENST00000649988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,226 - 11,769,064 (+)Ensembl
RefSeq Acc Id: ENST00000650050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,762,130 - 11,775,753 (+)Ensembl
RefSeq Acc Id: ENST00000650106   ⟹   ENSP00000497399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,765,538 - 11,767,986 (+)Ensembl
RefSeq Acc Id: ENST00000650215   ⟹   ENSP00000496944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,626 - 11,775,731 (+)Ensembl
RefSeq Acc Id: ENST00000650370   ⟹   ENSP00000498088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,758,195 - 11,775,760 (+)Ensembl
RefSeq Acc Id: ENST00000650628   ⟹   ENSP00000496838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,759,648 - 11,775,699 (+)Ensembl
RefSeq Acc Id: NM_001193270   ⟹   NP_001180199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,758,582 - 11,775,753 (+)NCBI
GRCh37X11,776,278 - 11,793,872 (+)RGD
CeleraX15,904,870 - 15,922,463 (+)RGD
HuRefX9,555,123 - 9,572,080 (+)RGD
CHM1_1X11,807,297 - 11,824,468 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282174   ⟹   NP_001269103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,758,159 - 11,775,753 (+)NCBI
HuRefX9,555,123 - 9,572,080 (+)NCBI
CHM1_1X11,806,915 - 11,824,468 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006800   ⟹   NP_006791
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,759,647 - 11,775,772 (+)NCBI
GRCh37X11,776,278 - 11,793,872 (+)RGD
Build 36X11,687,682 - 11,703,793 (+)NCBI Archive
CeleraX15,904,870 - 15,922,463 (+)RGD
HuRefX9,555,123 - 9,572,080 (+)RGD
CHM1_1X11,808,331 - 11,824,468 (+)NCBI
Sequence:
RefSeq Acc Id: NM_078628   ⟹   NP_523352
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,758,237 - 11,767,977 (+)NCBI
GRCh37X11,776,278 - 11,793,872 (+)RGD
Build 36X11,686,199 - 11,696,017 (+)NCBI Archive
CeleraX15,904,870 - 15,922,463 (+)RGD
HuRefX9,555,123 - 9,572,080 (+)RGD
CHM1_1X11,806,915 - 11,816,692 (+)NCBI
Sequence:
RefSeq Acc Id: NM_078629   ⟹   NP_523353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,758,237 - 11,775,772 (+)NCBI
GRCh37X11,776,278 - 11,793,872 (+)RGD
Build 36X11,686,199 - 11,703,791 (+)NCBI Archive
CeleraX15,904,870 - 15,922,463 (+)RGD
HuRefX9,555,123 - 9,572,080 (+)RGD
CHM1_1X11,806,915 - 11,824,468 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001180199   ⟸   NM_001193270
- Peptide Label: isoform e
- UniProtKB: Q8N5Y2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006791   ⟸   NM_006800
- Peptide Label: isoform c
- UniProtKB: Q8N5Y2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_523353   ⟸   NM_078629
- Peptide Label: isoform a
- UniProtKB: Q8N5Y2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_523352   ⟸   NM_078628
- Peptide Label: isoform d
- UniProtKB: Q8N5Y2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269103   ⟸   NM_001282174
- Peptide Label: isoform f
- UniProtKB: Q8N5Y2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000496997   ⟸   ENST00000648120
RefSeq Acc Id: ENSP00000497518   ⟸   ENST00000648013
RefSeq Acc Id: ENSP00000381538   ⟸   ENST00000398527
RefSeq Acc Id: ENSP00000497799   ⟸   ENST00000648614
RefSeq Acc Id: ENSP00000496974   ⟸   ENST00000648692
RefSeq Acc Id: ENSP00000497779   ⟸   ENST00000648656
RefSeq Acc Id: ENSP00000498069   ⟸   ENST00000648545
RefSeq Acc Id: ENSP00000496861   ⟸   ENST00000648287
RefSeq Acc Id: ENSP00000498117   ⟸   ENST00000649420
RefSeq Acc Id: ENSP00000496967   ⟸   ENST00000649271
RefSeq Acc Id: ENSP00000497949   ⟸   ENST00000649130
RefSeq Acc Id: ENSP00000497132   ⟸   ENST00000649851
RefSeq Acc Id: ENSP00000496803   ⟸   ENST00000649785
RefSeq Acc Id: ENSP00000498062   ⟸   ENST00000649797
RefSeq Acc Id: ENSP00000498168   ⟸   ENST00000649602
RefSeq Acc Id: ENSP00000497137   ⟸   ENST00000649649
RefSeq Acc Id: ENSP00000497496   ⟸   ENST00000649685
RefSeq Acc Id: ENSP00000498017   ⟸   ENST00000649078
RefSeq Acc Id: ENSP00000497278   ⟸   ENST00000467141
RefSeq Acc Id: ENSP00000418673   ⟸   ENST00000468149
RefSeq Acc Id: ENSP00000498088   ⟸   ENST00000650370
RefSeq Acc Id: ENSP00000496944   ⟸   ENST00000650215
RefSeq Acc Id: ENSP00000497399   ⟸   ENST00000650106
RefSeq Acc Id: ENSP00000354562   ⟸   ENST00000361672
RefSeq Acc Id: ENSP00000496838   ⟸   ENST00000650628
RefSeq Acc Id: ENSP00000338078   ⟸   ENST00000337339
RefSeq Acc Id: ENSP00000498064   ⟸   ENST00000482871
RefSeq Acc Id: ENSP00000312244   ⟸   ENST00000312196
RefSeq Acc Id: ENSP00000498026   ⟸   ENST00000483645
RefSeq Acc Id: ENSP00000370068   ⟸   ENST00000380692
RefSeq Acc Id: ENSP00000370069   ⟸   ENST00000380693
RefSeq Acc Id: ENSP00000370067   ⟸   ENST00000380691
RefSeq Acc Id: ENSP00000401809   ⟸   ENST00000421368
RefSeq Acc Id: ENSP00000419976   ⟸   ENST00000476743
RefSeq Acc Id: ENSP00000497600   ⟸   ENST00000647599
RefSeq Acc Id: ENSP00000497615   ⟸   ENST00000647869
RefSeq Acc Id: ENSP00000497753   ⟸   ENST00000647857
RefSeq Acc Id: ENSP00000497936   ⟸   ENST00000647839
Protein Domains
Chromo   MRG

Promoters
RGD ID:6809060
Promoter ID:HG_KWN:65996
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_078628,   OTTHUMT00000055751,   UC004CUW.1,   UC004CUX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,685,706 - 11,686,742 (+)MPROMDB
RGD ID:6808656
Promoter ID:HG_KWN:65997
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000380692,   NM_006800,   OTTHUMT00000055753,   OTTHUMT00000055755
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,687,426 - 11,688,352 (+)MPROMDB
RGD ID:6808655
Promoter ID:HG_KWN:65998
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000380691,   OTTHUMT00000055754
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,690,061 - 11,691,427 (+)MPROMDB
RGD ID:6809061
Promoter ID:HG_KWN:65999
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000055756
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,692,771 - 11,693,957 (+)MPROMDB
RGD ID:6809058
Promoter ID:HG_KWN:66000
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000055750
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,695,501 - 11,696,427 (+)MPROMDB
RGD ID:13604738
Promoter ID:EPDNEW_H28553
Type:initiation region
Name:MSL3_1
Description:male-specific lethal 3 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,758,237 - 11,758,297EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs) deletion Basilicata-Akhtar syndrome [RCV000851337]|Intellectual disability [RCV000656437] ChrX:11772247..11772254 [GRCh38]
ChrX:11790366..11790373 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter) single nucleotide variant Basilicata-Akhtar syndrome [RCV000851340]|Intellectual disability [RCV000656440] ChrX:11772246 [GRCh38]
ChrX:11790365 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
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_078629.4(MSL3):c.1036C>T (p.Gln346Ter) single nucleotide variant Basilicata-Akhtar syndrome [RCV000851338]|Intellectual disability [RCV000656438] ChrX:11765594 [GRCh38]
ChrX:11783713 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro) single nucleotide variant Basilicata-Akhtar syndrome [RCV000851339]|Intellectual disability [RCV000656439] ChrX:11765481 [GRCh38]
ChrX:11783600 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_078629.4(MSL3):c.1436dup (p.Leu480fs) duplication Intellectual disability [RCV000656443] ChrX:11772674..11772675 [GRCh38]
ChrX:11790793..11790794 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_078629.4(MSL3):c.1381+1G>T single nucleotide variant Basilicata-Akhtar syndrome [RCV000851336]|Intellectual disability [RCV000656436] ChrX:11772256 [GRCh38]
ChrX:11790375 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:11240104-11903527)x3 copy number gain See cases [RCV000054141] ChrX:11240104..11903527 [GRCh38]
ChrX:11258224..11921646 [GRCh37]
ChrX:11168145..11831567 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.2(chrX:11658644-12174505)x2 copy number gain See cases [RCV000054142] ChrX:11658644..12174505 [GRCh38]
ChrX:11676764..12192624 [GRCh37]
ChrX:11586685..12102545 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2(chrX:11541839-12655449)x3 copy number gain See cases [RCV000184087] ChrX:11541839..12655449 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:11674170-12615106)x3 copy number gain See cases [RCV000142591] ChrX:11674170..12615106 [GRCh38]
ChrX:11692290..12633225 [GRCh37]
ChrX:11602211..12543146 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs) deletion Intellectual disability [RCV000656441] ChrX:11765622..11765623 [GRCh38]
ChrX:11783741..11783742 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NC_000023.10:g.11633731_11797224del163494 deletion Intellectual disability [RCV000656445] ChrX:11633731..11797224 [GRCh37]
ChrX:Xp22.2
likely 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: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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
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
NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs) indel Intellectual disability [RCV000656442] ChrX:11775029..11775030 [GRCh38]
ChrX:11793148..11793149 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NC_000023.10:g.11600773_12249902del649130 deletion Intellectual disability [RCV000656444] ChrX:11600773..12249902 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_078629.4(MSL3):c.1193C>A (p.Ser398Ter) single nucleotide variant not specified [RCV000598610] ChrX:11768594 [GRCh38]
ChrX:11786713 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:11258243-14177713)x1 copy number loss See cases [RCV000448381] ChrX:11258243..14177713 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_078629.4(MSL3):c.1208del (p.Pro403fs) deletion Inborn genetic diseases [RCV000624640] ChrX:11768608 [GRCh38]
ChrX:11786727 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2(chrX:11622217-12676877)x2 copy number gain not provided [RCV000684273] ChrX:11622217..12676877 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11688762-12188817)x2 copy number gain not provided [RCV000684274] ChrX:11688762..12188817 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11770846-12680420)x3 copy number gain not provided [RCV000684275] ChrX:11770846..12680420 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:11532401-11935042)x2 copy number gain not provided [RCV000753381] ChrX:11532401..11935042 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:11544117-11935042)x2 copy number gain not provided [RCV000753382] ChrX:11544117..11935042 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:11644490-12054572)x3 copy number gain not provided [RCV000753383] ChrX:11644490..12054572 [GRCh37]
ChrX:Xp22.2
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 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:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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 Primary amenorrhea [RCV000754474] ChrX:11249664..11996670 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_078629.4(MSL3):c.1382-3C>T single nucleotide variant not provided [RCV000904948] ChrX:11772618 [GRCh38]
ChrX:11790737 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_078629.4(MSL3):c.1466+1G>A single nucleotide variant Basilicata-Akhtar syndrome [RCV000995808] ChrX:11772706 [GRCh38]
ChrX:11790825 [GRCh37]
ChrX:Xp22.2
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
NM_078629.4(MSL3):c.1319dup (p.Gly441fs) duplication not provided [RCV001008152] ChrX:11772187..11772188 [GRCh38]
ChrX:11790306..11790307 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:11688774-12188818)x2 copy number gain not provided [RCV000846746] ChrX:11688774..12188818 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_078629.4(MSL3):c.961C>T (p.Gln321Ter) single nucleotide variant not provided [RCV001249324] ChrX:11765519 [GRCh38]
ChrX:11783638 [GRCh37]
ChrX:Xp22.2
not provided
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_078629.4(MSL3):c.1359ACA[1] (p.Gln454del) microsatellite MSL3-Related Disorder [RCV001249411] ChrX:11772233..11772235 [GRCh38]
ChrX:11790352..11790354 [GRCh37]
ChrX:Xp22.2
not provided
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_078629.4(MSL3):c.947A>C (p.Asn316Thr) single nucleotide variant not provided [RCV001263419] ChrX:11765505 [GRCh38]
ChrX:11783624 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11741385-12371156)x1 copy number loss not provided [RCV001007262] ChrX:11741385..12371156 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11520757-11941532)x3 copy number gain not provided [RCV001007261] ChrX:11520757..11941532 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_078629.4(MSL3):c.1168_1169del (p.Lys390fs) deletion not provided [RCV001008626] ChrX:11765724..11765725 [GRCh38]
ChrX:11783843..11783844 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_078629.4(MSL3):c.969_970AG[1] (p.Glu324fs) microsatellite Global developmental delay [RCV001027676] ChrX:11765527..11765530 [GRCh38]
ChrX:11783646..11783649 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_078629.4(MSL3):c.1314C>A (p.Tyr438Ter) single nucleotide variant Basilicata-Akhtar syndrome [RCV001254036] ChrX:11772188 [GRCh38]
ChrX:11790307 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_078629.4(MSL3):c.1360C>T (p.Gln454Ter) single nucleotide variant Inborn genetic diseases [RCV001265979] ChrX:11772234 [GRCh38]
ChrX:11790353 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_078629.4(MSL3):c.1171+1G>A single nucleotide variant Neurodevelopmental abnormality [RCV001264670] ChrX:11765730 [GRCh38]
ChrX:11783849 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_078629.4(MSL3):c.1125_1141dup (p.Met381fs) duplication Inborn genetic diseases [RCV001266445] ChrX:11765677..11765678 [GRCh38]
ChrX:11783796..11783797 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_078629.4(MSL3):c.709_715dup (p.Asn239fs) duplication Inborn genetic diseases [RCV001266337] ChrX:11762950..11762951 [GRCh38]
ChrX:11781069..11781070 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7370 AgrOrtholog
COSMIC MSL3 COSMIC
Ensembl Genes ENSG00000005302 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000312244 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000338078 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354562 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370067 UniProtKB/TrEMBL
  ENSP00000370068 UniProtKB/TrEMBL
  ENSP00000370069 UniProtKB/TrEMBL
  ENSP00000381538 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401809 UniProtKB/TrEMBL
  ENSP00000418673 UniProtKB/TrEMBL
  ENSP00000419976 UniProtKB/TrEMBL
  ENSP00000496803 UniProtKB/TrEMBL
  ENSP00000496838 UniProtKB/Swiss-Prot
  ENSP00000496861 UniProtKB/TrEMBL
  ENSP00000496944 UniProtKB/Swiss-Prot
  ENSP00000496967 UniProtKB/Swiss-Prot
  ENSP00000496974 UniProtKB/TrEMBL
  ENSP00000496997 UniProtKB/TrEMBL
  ENSP00000497132 UniProtKB/TrEMBL
  ENSP00000497137 UniProtKB/Swiss-Prot
  ENSP00000497278 UniProtKB/TrEMBL
  ENSP00000497399 UniProtKB/TrEMBL
  ENSP00000497496 UniProtKB/Swiss-Prot
  ENSP00000497518 UniProtKB/Swiss-Prot
  ENSP00000497600 UniProtKB/TrEMBL
  ENSP00000497615 UniProtKB/TrEMBL
  ENSP00000497753 UniProtKB/TrEMBL
  ENSP00000497779 UniProtKB/TrEMBL
  ENSP00000497799 UniProtKB/TrEMBL
  ENSP00000497936 UniProtKB/TrEMBL
  ENSP00000497949 UniProtKB/TrEMBL
  ENSP00000498017 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498026 UniProtKB/TrEMBL
  ENSP00000498062 UniProtKB/TrEMBL
  ENSP00000498064 UniProtKB/Swiss-Prot
  ENSP00000498069 UniProtKB/TrEMBL
  ENSP00000498088 UniProtKB/TrEMBL
  ENSP00000498117 UniProtKB/TrEMBL
  ENSP00000498168 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000312196 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000337339 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361672 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380691 UniProtKB/TrEMBL
  ENST00000380692 UniProtKB/TrEMBL
  ENST00000380693 UniProtKB/TrEMBL
  ENST00000398527 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000421368 UniProtKB/TrEMBL
  ENST00000467141 UniProtKB/TrEMBL
  ENST00000468149 UniProtKB/TrEMBL
  ENST00000476743 UniProtKB/TrEMBL
  ENST00000482871 UniProtKB/Swiss-Prot
  ENST00000483645 UniProtKB/TrEMBL
  ENST00000647599 UniProtKB/TrEMBL
  ENST00000647839 UniProtKB/TrEMBL
  ENST00000647857 UniProtKB/TrEMBL
  ENST00000647869 UniProtKB/TrEMBL
  ENST00000648013 UniProtKB/Swiss-Prot
  ENST00000648120 UniProtKB/TrEMBL
  ENST00000648287 UniProtKB/TrEMBL
  ENST00000648545 UniProtKB/TrEMBL
  ENST00000648614 UniProtKB/TrEMBL
  ENST00000648656 UniProtKB/TrEMBL
  ENST00000648692 UniProtKB/TrEMBL
  ENST00000649078 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000649130 UniProtKB/TrEMBL
  ENST00000649271 UniProtKB/Swiss-Prot
  ENST00000649420 UniProtKB/TrEMBL
  ENST00000649602 UniProtKB/Swiss-Prot
  ENST00000649649 UniProtKB/Swiss-Prot
  ENST00000649685 UniProtKB/Swiss-Prot
  ENST00000649785 UniProtKB/TrEMBL
  ENST00000649797 UniProtKB/TrEMBL
  ENST00000649851 UniProtKB/TrEMBL
  ENST00000650106 UniProtKB/TrEMBL
  ENST00000650215 UniProtKB/Swiss-Prot
  ENST00000650370 UniProtKB/TrEMBL
  ENST00000650628 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.274.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000005302 GTEx
HGNC ID HGNC:7370 ENTREZGENE
Human Proteome Map MSL3 Human Proteome Map
InterPro Chromo-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chromo/chromo_shadow_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRG_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRG_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MSL3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor-knot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10943 UniProtKB/Swiss-Prot
NCBI Gene 10943 ENTREZGENE
OMIM 300609 OMIM
  301032 OMIM
PANTHER PTHR10880 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10880:SF36 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MRG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor-knot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164723161 PharmGKB
PROSITE MRG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CHROMO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRI6_HUMAN UniProtKB/TrEMBL
  A0A3B3IRN2_HUMAN UniProtKB/TrEMBL
  A0A3B3IRT2_HUMAN UniProtKB/TrEMBL
  A0A3B3IS16_HUMAN UniProtKB/TrEMBL
  A0A3B3IS72_HUMAN UniProtKB/TrEMBL
  A0A3B3ISB4_HUMAN UniProtKB/TrEMBL
  A0A3B3IT49_HUMAN UniProtKB/TrEMBL
  A0A3B3IT59_HUMAN UniProtKB/TrEMBL
  A0A3B3ITF3_HUMAN UniProtKB/TrEMBL
  A0A3B3ITF8_HUMAN UniProtKB/TrEMBL
  A0A3B3ITH5_HUMAN UniProtKB/TrEMBL
  A0A3B3ITL5_HUMAN UniProtKB/TrEMBL
  A0A3B3ITV8_HUMAN UniProtKB/TrEMBL
  A0A3B3ITX5_HUMAN UniProtKB/TrEMBL
  A0A3B3IU53_HUMAN UniProtKB/TrEMBL
  A0A3B3IU64_HUMAN UniProtKB/TrEMBL
  A0A3B3IU80_HUMAN UniProtKB/TrEMBL
  A0A3B3IUB0_HUMAN UniProtKB/TrEMBL
  A0A3F2YNX2_HUMAN UniProtKB/TrEMBL
  A6NLU8_HUMAN UniProtKB/TrEMBL
  C9JKR8_HUMAN UniProtKB/TrEMBL
  C9JXM9_HUMAN UniProtKB/TrEMBL
  F8WC61_HUMAN UniProtKB/TrEMBL
  H7BYE4_HUMAN UniProtKB/TrEMBL
  MS3L1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NCU2 UniProtKB/Swiss-Prot
  A6NHW8 UniProtKB/Swiss-Prot
  A8K165 UniProtKB/Swiss-Prot
  B4DUV8 UniProtKB/Swiss-Prot
  B7Z227 UniProtKB/Swiss-Prot
  Q9UG70 UniProtKB/Swiss-Prot
  Q9Y5Z8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-30 MSL3  MSL complex subunit 3    male-specific lethal 3 homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED