HDAC6 (histone deacetylase 6) - Rat Genome Database

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Gene: HDAC6 (histone deacetylase 6) Homo sapiens
Analyze
Symbol: HDAC6
Name: histone deacetylase 6
RGD ID: 1351463
HGNC Page HGNC
Description: Exhibits several functions, including cytoskeletal protein binding activity; enzyme binding activity; and protein deacetylase activity. Involved in several processes, including negative regulation of cellular component organization; protein deacetylation; and regulation of cellular protein metabolic process. Localizes to several cellular components, including aggresome; caveola; and microtubule cytoskeleton. Colocalizes with dynein complex. Implicated in chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. Biomarker of cervix uteri carcinoma in situ; cholangiocarcinoma; and polycystic liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CPBHM; FLJ16239; HD6; JM21; PPP1R90; tubulin-lysine deacetylase HDAC6
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 EnsemblX48,801,377 - 48,824,982 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,801,398 - 48,824,982 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,659,805 - 48,683,392 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,545,431 - 48,568,324 (+)NCBINCBI36hg18NCBI36
Build 34X48,416,735 - 48,439,629NCBI
CeleraX52,980,148 - 53,003,041 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,319,662 - 46,343,018 (+)NCBIHuRef
CHM1_1X48,690,928 - 48,714,536 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aggrephagy  (TAS)
aggresome assembly  (IMP,ISO)
axonal transport of mitochondrion  (ISO)
cellular response to hydrogen peroxide  (IMP)
cellular response to misfolded protein  (IEA,ISO)
cellular response to oxidative stress  (ISO)
cellular response to parathyroid hormone stimulus  (ISO)
cellular response to topologically incorrect protein  (IMP)
cilium assembly  (TAS)
collateral sprouting  (IEA,ISO)
dendritic spine morphogenesis  (IEA,ISO)
histone deacetylation  (IDA,ISS)
histone H3 deacetylation  (IEA)
Hsp90 deacetylation  (IEA,ISO)
intracellular protein transport  (IMP)
lysosome localization  (IMP)
mitochondrion localization  (IEA)
myotube differentiation  (ISO)
negative regulation of axon extension involved in axon guidance  (ISO)
negative regulation of hydrogen peroxide metabolic process  (IC)
negative regulation of microtubule depolymerization  (IEA,ISO)
negative regulation of neuron projection development  (ISO)
negative regulation of oxidoreductase activity  (IC)
negative regulation of protein acetylation  (ISO)
negative regulation of protein-containing complex assembly  (IMP)
negative regulation of protein-containing complex disassembly  (IMP)
negative regulation of proteolysis  (IMP)
negative regulation of transcription, DNA-templated  (ISS)
neuron differentiation  (ISO)
parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization  (IGI)
peptidyl-lysine deacetylation  (IMP)
polyamine deacetylation  (IDA)
polyubiquitinated misfolded protein transport  (IMP)
positive regulation of cholangiocyte proliferation  (ISO)
positive regulation of dendrite morphogenesis  (ISO)
positive regulation of epithelial cell migration  (IMP)
positive regulation of hydrogen peroxide-mediated programmed cell death  (IDA)
positive regulation of mitophagy in response to mitochondrial depolarization  (ISO)
positive regulation of oxidative stress-induced neuron death  (ISO)
positive regulation of peptidyl-serine phosphorylation  (IMP)
positive regulation of signaling receptor activity  (IMP)
positive regulation of synaptic transmission, glutamatergic  (ISO)
positive regulation of tubulin deacetylation  (ISO)
protein deacetylation  (IDA,IMP,ISO,TAS)
protein destabilization  (IEA)
protein polyubiquitination  (IEA,ISO)
protein quality control for misfolded or incompletely synthesized proteins  (IMP)
protein-containing complex disassembly  (IEA,ISO)
regulation of androgen receptor signaling pathway  (TAS)
regulation of autophagy  (TAS)
regulation of autophagy of mitochondrion  (TAS)
regulation of establishment of protein localization  (IEA,ISO)
regulation of fat cell differentiation  (IEA,ISO)
regulation of gene expression, epigenetic  (IMP)
regulation of macroautophagy  (IMP)
regulation of microtubule cytoskeleton organization  (ISO)
regulation of microtubule-based movement  (IC)
regulation of mitochondrion organization  (ISO)
regulation of protein phosphorylation  (ISO)
regulation of protein stability  (IMP)
response to amphetamine  (ISO)
response to corticosterone  (ISO)
response to dexamethasone  (ISO)
response to growth factor  (IMP)
response to immobilization stress  (ISO)
response to misfolded protein  (IMP)
skeletal muscle tissue development  (ISO)
spermidine deacetylation  (IDA)
tubulin deacetylation  (IDA,ISO,ISS,TAS)
ubiquitin-dependent protein catabolic process  (ISO)
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9139815   PMID:9150131   PMID:10048485   PMID:10220385   PMID:10898795   PMID:11474198   PMID:11533236   PMID:11677242   PMID:11689694   PMID:11861901   PMID:11948178   PMID:12024216  
PMID:12032081   PMID:12354939   PMID:12391164   PMID:12477932   PMID:12486003   PMID:12535528   PMID:12606581   PMID:12620231   PMID:12718889   PMID:12792815   PMID:14670976   PMID:14675537  
PMID:14702039   PMID:14743216   PMID:15102857   PMID:15171253   PMID:15302935   PMID:15347674   PMID:15467736   PMID:15469820   PMID:15501975   PMID:15806142   PMID:15831498   PMID:15831516  
PMID:15835920   PMID:15916966   PMID:15937109   PMID:15937340   PMID:15976449   PMID:16082198   PMID:16148047   PMID:16186112   PMID:16192271   PMID:16288017   PMID:16344560   PMID:16738306  
PMID:16919237   PMID:16951198   PMID:16964243   PMID:17389687   PMID:17474147   PMID:17512543   PMID:17516032   PMID:17588522   PMID:17604723   PMID:17643370   PMID:17785525   PMID:17846173  
PMID:17851643   PMID:17872950   PMID:18029348   PMID:18079183   PMID:18316616   PMID:18356165   PMID:18413721   PMID:18499657   PMID:18568448   PMID:18591380   PMID:18606987   PMID:18636984  
PMID:18644987   PMID:18671804   PMID:18697214   PMID:18781140   PMID:18794144   PMID:18852123   PMID:18996840   PMID:19033385   PMID:19036992   PMID:19081074   PMID:19167333   PMID:19228685  
PMID:19321449   PMID:19344692   PMID:19383825   PMID:19438744   PMID:19457097   PMID:19596000   PMID:19737819   PMID:19744931   PMID:19805354   PMID:19855091   PMID:19893491   PMID:19910924  
PMID:19913121   PMID:19961433   PMID:20008322   PMID:20018896   PMID:20029029   PMID:20102703   PMID:20129057   PMID:20133936   PMID:20159555   PMID:20181727   PMID:20308065   PMID:20360068  
PMID:20371724   PMID:20457763   PMID:20593489   PMID:20628086   PMID:20696758   PMID:20720006   PMID:20837465   PMID:20970878   PMID:21044318   PMID:21076528   PMID:21082217   PMID:21090589  
PMID:21103663   PMID:21220424   PMID:21235576   PMID:21284752   PMID:21340680   PMID:21377170   PMID:21421902   PMID:21455583   PMID:21486957   PMID:21532619   PMID:21562571   PMID:21690293  
PMID:21699378   PMID:21753002   PMID:21847094   PMID:21847364   PMID:21900206   PMID:21949397   PMID:21952047   PMID:21988832   PMID:22022450   PMID:22069321   PMID:22089141   PMID:22124372  
PMID:22193721   PMID:22238643   PMID:22334690   PMID:22367689   PMID:22367781   PMID:22372633   PMID:22375943   PMID:22384180   PMID:22392728   PMID:22464548   PMID:22492994   PMID:22504143  
PMID:22589388   PMID:22645275   PMID:22658674   PMID:22674379   PMID:22678362   PMID:22766642   PMID:22778253   PMID:22792322   PMID:22936009   PMID:22952844   PMID:22955928   PMID:22957056  
PMID:22967444   PMID:22989952   PMID:22994762   PMID:23010497   PMID:23076141   PMID:23084749   PMID:23093407   PMID:23133622   PMID:23152903   PMID:23159615   PMID:23181831   PMID:23258539  
PMID:23322205   PMID:23402884   PMID:23405166   PMID:23487739   PMID:23580651   PMID:23618908   PMID:23621219   PMID:23634874   PMID:23698468   PMID:23703321   PMID:23723075   PMID:23727580  
PMID:23752268   PMID:23770849   PMID:23798680   PMID:23824909   PMID:23962722   PMID:23974956   PMID:24023063   PMID:24025866   PMID:24035499   PMID:24086678   PMID:24089523   PMID:24113571  
PMID:24146251   PMID:24200693   PMID:24216476   PMID:24220335   PMID:24255178   PMID:24302573   PMID:24308962   PMID:24413532   PMID:24474193   PMID:24474778   PMID:24561123   PMID:24574519  
PMID:24614595   PMID:24618845   PMID:24658140   PMID:24685680   PMID:24687993   PMID:24722339   PMID:24795145   PMID:24861260   PMID:24882211   PMID:24932665   PMID:25031336   PMID:25070956  
PMID:25111897   PMID:25299772   PMID:25307283   PMID:25342804   PMID:25402006   PMID:25422469   PMID:25429107   PMID:25437307   PMID:25482939   PMID:25516595   PMID:25548531   PMID:25609649  
PMID:25770209   PMID:25774669   PMID:25860570   PMID:25873389   PMID:25921289   PMID:25946558   PMID:25963833   PMID:26031809   PMID:26080397   PMID:26086159   PMID:26105074   PMID:26112604  
PMID:26112958   PMID:26116270   PMID:26119938   PMID:26150340   PMID:26186194   PMID:26210454   PMID:26227334   PMID:26246421   PMID:26328501   PMID:26363065   PMID:26363102   PMID:26382850  
PMID:26388610   PMID:26461065   PMID:26471297   PMID:26496610   PMID:26502922   PMID:26508657   PMID:26524593   PMID:26549023   PMID:26643555   PMID:26643866   PMID:26657153   PMID:26673895  
PMID:26719334   PMID:26746851   PMID:26747087   PMID:26763233   PMID:26775640   PMID:26783207   PMID:26848526   PMID:27090797   PMID:27182664   PMID:27221381   PMID:27222932   PMID:27267806  
PMID:27311481   PMID:27358110   PMID:27362804   PMID:27369083   PMID:27404291   PMID:27419634   PMID:27422033   PMID:27499032   PMID:27506904   PMID:27556504   PMID:27623077   PMID:27900262  
PMID:27959772   PMID:27993968   PMID:28035401   PMID:28053023   PMID:28128740   PMID:28190767   PMID:28195408   PMID:28265093   PMID:28271209   PMID:28319113   PMID:28319114   PMID:28342984  
PMID:28386764   PMID:28452069   PMID:28499252   PMID:28514442   PMID:28515276   PMID:28516954   PMID:28540657   PMID:28581483   PMID:28586053   PMID:28599312   PMID:28628306   PMID:28668087  
PMID:28674407   PMID:28700998   PMID:28737768   PMID:28749131   PMID:28779345   PMID:28854366   PMID:28855742   PMID:28866885   PMID:28912522   PMID:28986522   PMID:29021520   PMID:29135973  
PMID:29176689   PMID:29222038   PMID:29225034   PMID:29229926   PMID:29259132   PMID:29278704   PMID:29281743   PMID:29355491   PMID:29384425   PMID:29414656   PMID:29415205   PMID:29427610  
PMID:29467282   PMID:29507755   PMID:29509190   PMID:29519959   PMID:29523311   PMID:29643474   PMID:29665050   PMID:29730163   PMID:29775292   PMID:29876933   PMID:29980788   PMID:30009671  
PMID:30021884   PMID:30038235   PMID:30044986   PMID:30096875   PMID:30106132   PMID:30273544   PMID:30286953   PMID:30335599   PMID:30419336   PMID:30444165   PMID:30469013   PMID:30538141  
PMID:30579537   PMID:30631154   PMID:30666796   PMID:30770470   PMID:30787326   PMID:30925865   PMID:30947018   PMID:31024851   PMID:31076518   PMID:31264358   PMID:31268348   PMID:31501480  
PMID:31505170   PMID:31541095   PMID:31586073   PMID:31617661   PMID:31753913   PMID:31755702   PMID:31857589   PMID:31894849   PMID:31980649   PMID:32082291   PMID:32107418   PMID:32152128  
PMID:32169902   PMID:32203162   PMID:32221047   PMID:32284336   PMID:32382008   PMID:32591593   PMID:32796032   PMID:32814053   PMID:32985730   PMID:33139698   PMID:33237772   PMID:33346336  
PMID:33807514  


Genomics

Comparative Map Data
HDAC6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,801,377 - 48,824,982 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,801,398 - 48,824,982 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,659,805 - 48,683,392 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,545,431 - 48,568,324 (+)NCBINCBI36hg18NCBI36
Build 34X48,416,735 - 48,439,629NCBI
CeleraX52,980,148 - 53,003,041 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,319,662 - 46,343,018 (+)NCBIHuRef
CHM1_1X48,690,928 - 48,714,536 (+)NCBICHM1_1
Hdac6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,796,355 - 7,814,284 (-)NCBIGRCm39mm39
GRCm39 EnsemblX7,796,359 - 7,814,128 (-)Ensembl
GRCm38X7,930,116 - 7,948,047 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,930,120 - 7,947,889 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,507,248 - 7,525,015 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X7,087,085 - 7,104,203 (-)NCBImm8
CeleraX3,521,555 - 3,539,209 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.58NCBI
Hdac6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,550,645 - 14,572,445 (+)NCBI
Rnor_6.0 EnsemblX15,396,895 - 15,417,146 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX15,295,473 - 15,316,671 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,396,185 - 15,417,486 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,075,029 - 16,096,914 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,585,852 - 26,606,999 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X26,658,892 - 26,659,565 (+)NCBI
CeleraX14,635,909 - 14,657,201 (+)NCBICelera
Cytogenetic MapXq12NCBI
Hdac6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543348,019 - 378,071 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955543348,314 - 378,391 (+)NCBIChiLan1.0ChiLan1.0
HDAC6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X48,960,181 - 48,982,648 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX48,960,430 - 48,982,642 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X41,099,539 - 41,122,650 (+)NCBIMhudiblu_PPA_v0panPan3
HDAC6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,004,268 - 42,024,726 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,004,591 - 42,024,427 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,379,688 - 16,400,160 (+)NCBI
ROS_Cfam_1.0X42,140,437 - 42,160,915 (+)NCBI
UMICH_Zoey_3.1X42,126,695 - 42,147,162 (+)NCBI
UNSW_CanFamBas_1.0X42,114,965 - 42,135,438 (+)NCBI
UU_Cfam_GSD_1.0X42,209,124 - 42,229,594 (+)NCBI
Hdac6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,517,114 - 34,538,029 (+)NCBI
SpeTri2.0NW_004936721757,500 - 778,416 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HDAC6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,917,960 - 42,941,890 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,917,911 - 42,941,894 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,858,997 - 47,883,202 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HDAC6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X45,927,625 - 45,951,636 (+)NCBI
ChlSab1.1 EnsemblX45,928,092 - 45,952,929 (+)Ensembl
Hdac6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893608,744 - 627,600 (+)NCBI

Position Markers
1916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,683,120 - 48,683,204UniSTSGRCh37
Build 36X48,568,064 - 48,568,148RGDNCBI36
CeleraX52,980,324 - 52,980,408RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,342,758 - 46,342,842UniSTS
GeneMap99-GB4 RH MapX138.89UniSTS
NCBI RH MapX268.1UniSTS
WI-8811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,683,058 - 48,683,172UniSTSGRCh37
Build 36X48,568,002 - 48,568,116RGDNCBI36
CeleraX52,980,356 - 52,980,470RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,342,696 - 46,342,810UniSTS
GeneMap99-GB4 RH MapX139.28UniSTS
Whitehead-RH MapX71.9UniSTS
DXS6992E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,683,242 - 48,683,360UniSTSGRCh37
Build 36X48,568,186 - 48,568,304RGDNCBI36
CeleraX52,980,168 - 52,980,286RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,342,880 - 46,342,998UniSTS
GeneMap99-GB4 RH MapX139.21UniSTS
NCBI RH MapX268.1UniSTS
A002Y02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,683,126 - 48,683,376UniSTSGRCh37
Build 36X48,568,070 - 48,568,320RGDNCBI36
CeleraX52,980,152 - 52,980,402RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,342,764 - 46,343,014UniSTS
GeneMap99-GB4 RH MapX140.56UniSTS
NCBI RH MapX197.4UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
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Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR433hsa-miR-433-5pMirecordsexternal_infoNANA20181727

Predicted Target Of
Summary Value
Count of predictions:10154
Count of miRNA genes:1327
Interacting mature miRNAs:1768
Transcripts:ENST00000334136, ENST00000376610, ENST00000376619, ENST00000376643, ENST00000413163, ENST00000423941, ENST00000426196, ENST00000430858, ENST00000438518, ENST00000440653, ENST00000441703, ENST00000443563, ENST00000444343, ENST00000461608, ENST00000462730, ENST00000465269, ENST00000465457, ENST00000468949, ENST00000469223, ENST00000470942, ENST00000476625, ENST00000477528, ENST00000477561, ENST00000478095, ENST00000480525, ENST00000481929, ENST00000483506, ENST00000483656, ENST00000485102, ENST00000486227, ENST00000486665, ENST00000488543, ENST00000488905, ENST00000489053, ENST00000489352, ENST00000493923, ENST00000495515, ENST00000498808
Prediction methods:Microtar, Miranda, Pita, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2371 2302 1695 598 1454 442 4250 1918 3441 371 1405 1535 169 1204 2733 3
Low 68 689 31 26 497 23 107 279 293 48 55 78 6 1 55 3 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_246712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC231533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF174499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF196971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX938946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA191923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC377684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC402494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000334136   ⟹   ENSP00000334061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,067 - 48,824,976 (+)Ensembl
RefSeq Acc Id: ENST00000376610   ⟹   ENSP00000365795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,801,949 - 48,806,706 (+)Ensembl
RefSeq Acc Id: ENST00000376619   ⟹   ENSP00000365804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,034 - 48,824,976 (+)Ensembl
RefSeq Acc Id: ENST00000376643   ⟹   ENSP00000365831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,801,700 - 48,806,706 (+)Ensembl
RefSeq Acc Id: ENST00000423941   ⟹   ENSP00000392815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,801,377 - 48,805,661 (+)Ensembl
RefSeq Acc Id: ENST00000430858   ⟹   ENSP00000397697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,823,518 - 48,824,976 (+)Ensembl
RefSeq Acc Id: ENST00000438518   ⟹   ENSP00000403370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,801,396 - 48,802,930 (+)Ensembl
RefSeq Acc Id: ENST00000440653   ⟹   ENSP00000394377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,550 - 48,806,445 (+)Ensembl
RefSeq Acc Id: ENST00000441703   ⟹   ENSP00000393916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,186 - 48,805,745 (+)Ensembl
RefSeq Acc Id: ENST00000443563   ⟹   ENSP00000402751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,515 - 48,806,431 (+)Ensembl
RefSeq Acc Id: ENST00000461608   ⟹   ENSP00000496032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,806,419 - 48,806,959 (+)Ensembl
RefSeq Acc Id: ENST00000462730   ⟹   ENSP00000496727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,016 - 48,806,946 (+)Ensembl
RefSeq Acc Id: ENST00000465269   ⟹   ENSP00000494447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,064 - 48,805,855 (+)Ensembl
RefSeq Acc Id: ENST00000465457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,815,799 - 48,817,336 (+)Ensembl
RefSeq Acc Id: ENST00000468949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,780 - 48,806,648 (+)Ensembl
RefSeq Acc Id: ENST00000469223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,801,793 - 48,808,137 (+)Ensembl
RefSeq Acc Id: ENST00000470942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,816,570 - 48,820,203 (+)Ensembl
RefSeq Acc Id: ENST00000476625   ⟹   ENSP00000495151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,082 - 48,806,233 (+)Ensembl
RefSeq Acc Id: ENST00000477528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,055 - 48,824,982 (+)Ensembl
RefSeq Acc Id: ENST00000477561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,110 - 48,808,270 (+)Ensembl
RefSeq Acc Id: ENST00000478095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,814,540 - 48,815,428 (+)Ensembl
RefSeq Acc Id: ENST00000480525   ⟹   ENSP00000495932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,818,071 - 48,823,109 (+)Ensembl
RefSeq Acc Id: ENST00000483506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,816,960 - 48,818,085 (+)Ensembl
RefSeq Acc Id: ENST00000483656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,801,991 - 48,808,046 (+)Ensembl
RefSeq Acc Id: ENST00000485102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,814,765 - 48,816,176 (+)Ensembl
RefSeq Acc Id: ENST00000486227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,813,353 - 48,824,976 (+)Ensembl
RefSeq Acc Id: ENST00000486665   ⟹   ENSP00000495872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,816,473 - 48,820,180 (+)Ensembl
RefSeq Acc Id: ENST00000488543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,819,447 - 48,824,976 (+)Ensembl
RefSeq Acc Id: ENST00000488905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,815,269 - 48,815,844 (+)Ensembl
RefSeq Acc Id: ENST00000489053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,817,638 - 48,818,286 (+)Ensembl
RefSeq Acc Id: ENST00000489352   ⟹   ENSP00000496207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,207 - 48,805,846 (+)Ensembl
RefSeq Acc Id: ENST00000493923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,908 - 48,803,439 (+)Ensembl
RefSeq Acc Id: ENST00000495515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,816,190 - 48,816,953 (+)Ensembl
RefSeq Acc Id: ENST00000498808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,818,313 - 48,823,579 (+)Ensembl
RefSeq Acc Id: ENST00000642405   ⟹   ENSP00000494293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,806,609 - 48,815,023 (+)Ensembl
RefSeq Acc Id: ENST00000643374   ⟹   ENSP00000496046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,159 - 48,824,956 (+)Ensembl
RefSeq Acc Id: ENST00000643659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,133 - 48,824,860 (+)Ensembl
RefSeq Acc Id: ENST00000643934   ⟹   ENSP00000494503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,187 - 48,824,958 (+)Ensembl
RefSeq Acc Id: ENST00000644068   ⟹   ENSP00000496013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,168 - 48,824,976 (+)Ensembl
RefSeq Acc Id: ENST00000644164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,815,280 - 48,816,268 (+)Ensembl
RefSeq Acc Id: ENST00000645643   ⟹   ENSP00000494007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,816,470 - 48,824,947 (+)Ensembl
RefSeq Acc Id: ENST00000646703   ⟹   ENSP00000493921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,084 - 48,816,011 (+)Ensembl
RefSeq Acc Id: ENST00000647398   ⟹   ENSP00000494230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,802,888 - 48,824,967 (+)Ensembl
RefSeq Acc Id: NM_001321225   ⟹   NP_001308154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,801,398 - 48,824,976 (+)NCBI
CHM1_1X48,690,928 - 48,714,536 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321226   ⟹   NP_001308155
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,824,976 (+)NCBI
CHM1_1X48,691,567 - 48,714,536 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321227   ⟹   NP_001308156
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,824,976 (+)NCBI
CHM1_1X48,691,567 - 48,714,536 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321228   ⟹   NP_001308157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,824,976 (+)NCBI
CHM1_1X48,691,567 - 48,714,536 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321229   ⟹   NP_001308158
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,801,949 - 48,824,982 (+)NCBI
CHM1_1X48,691,500 - 48,714,536 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321230   ⟹   NP_001308159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,806,960 (+)NCBI
CHM1_1X48,691,567 - 48,696,511 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321231   ⟹   NP_001308160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,806,960 (+)NCBI
CHM1_1X48,691,567 - 48,695,406 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006044   ⟹   NP_006035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,824,976 (+)NCBI
GRCh37X48,660,086 - 48,683,408 (+)NCBI
Build 36X48,545,431 - 48,568,324 (+)NCBI Archive
HuRefX46,319,662 - 46,343,018 (+)ENTREZGENE
CHM1_1X48,691,567 - 48,714,536 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135591
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,663 - 48,824,982 (+)NCBI
CHM1_1X48,692,214 - 48,714,536 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135592
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,814,854 (+)NCBI
CHM1_1X48,691,567 - 48,704,405 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135593
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,806,960 (+)NCBI
CHM1_1X48,691,567 - 48,695,406 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029187   ⟹   XP_016884676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,801,896 - 48,822,707 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755632
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,067 - 48,824,976 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958755
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,801,896 - 48,824,976 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958756
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,801,896 - 48,824,976 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958757
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,801,896 - 48,824,976 (+)NCBI
Sequence:
RefSeq Acc Id: XR_246712
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,801,896 - 48,824,976 (+)NCBI
GRCh37X48,660,086 - 48,683,408 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001308154 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308155 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308156 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308157 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308158 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308160 (Get FASTA)   NCBI Sequence Viewer  
  NP_006035 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884676 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD29048 (Get FASTA)   NCBI Sequence Viewer  
  AAF36540 (Get FASTA)   NCBI Sequence Viewer  
  AAH05872 (Get FASTA)   NCBI Sequence Viewer  
  AAH11498 (Get FASTA)   NCBI Sequence Viewer  
  AAH13737 (Get FASTA)   NCBI Sequence Viewer  
  AAH69243 (Get FASTA)   NCBI Sequence Viewer  
  AAP35295 (Get FASTA)   NCBI Sequence Viewer  
  BAA74924 (Get FASTA)   NCBI Sequence Viewer  
  BAG50935 (Get FASTA)   NCBI Sequence Viewer  
  BAG51263 (Get FASTA)   NCBI Sequence Viewer  
  BAG52988 (Get FASTA)   NCBI Sequence Viewer  
  BAG53817 (Get FASTA)   NCBI Sequence Viewer  
  BAG54760 (Get FASTA)   NCBI Sequence Viewer  
  BAG58680 (Get FASTA)   NCBI Sequence Viewer  
  BAG64088 (Get FASTA)   NCBI Sequence Viewer  
  BAG64143 (Get FASTA)   NCBI Sequence Viewer  
  CAA09893 (Get FASTA)   NCBI Sequence Viewer  
  CAB70878 (Get FASTA)   NCBI Sequence Viewer  
  CAF04396 (Get FASTA)   NCBI Sequence Viewer  
  EAW50744 (Get FASTA)   NCBI Sequence Viewer  
  EAW50745 (Get FASTA)   NCBI Sequence Viewer  
  EAW50746 (Get FASTA)   NCBI Sequence Viewer  
  EAW50747 (Get FASTA)   NCBI Sequence Viewer  
  EAW50748 (Get FASTA)   NCBI Sequence Viewer  
  Q9UBN7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_006035   ⟸   NM_006044
- Peptide Label: isoform b
- UniProtKB: Q9UBN7 (UniProtKB/Swiss-Prot),   Q9NSW6 (UniProtKB/TrEMBL),   A0A024QZ26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308154   ⟸   NM_001321225
- Peptide Label: isoform a
- UniProtKB: B4DZH6 (UniProtKB/TrEMBL),   Q9NSW6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308158   ⟸   NM_001321229
- Peptide Label: isoform b
- UniProtKB: Q9UBN7 (UniProtKB/Swiss-Prot),   A0A024QZ26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308155   ⟸   NM_001321226
- Peptide Label: isoform b
- UniProtKB: Q9UBN7 (UniProtKB/Swiss-Prot),   A0A024QZ26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308156   ⟸   NM_001321227
- Peptide Label: isoform b
- UniProtKB: Q9UBN7 (UniProtKB/Swiss-Prot),   A0A024QZ26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308157   ⟸   NM_001321228
- Peptide Label: isoform b
- UniProtKB: Q9UBN7 (UniProtKB/Swiss-Prot),   A0A024QZ26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308159   ⟸   NM_001321230
- Peptide Label: isoform c
- UniProtKB: Q9BRX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308160   ⟸   NM_001321231
- Peptide Label: isoform c
- UniProtKB: Q9BRX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884676   ⟸   XM_017029187
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000392815   ⟸   ENST00000423941
RefSeq Acc Id: ENSP00000496727   ⟸   ENST00000462730
RefSeq Acc Id: ENSP00000403370   ⟸   ENST00000438518
RefSeq Acc Id: ENSP00000494447   ⟸   ENST00000465269
RefSeq Acc Id: ENSP00000334061   ⟸   ENST00000334136
RefSeq Acc Id: ENSP00000394377   ⟸   ENST00000440653
RefSeq Acc Id: ENSP00000365831   ⟸   ENST00000376643
RefSeq Acc Id: ENSP00000365795   ⟸   ENST00000376610
RefSeq Acc Id: ENSP00000365804   ⟸   ENST00000376619
RefSeq Acc Id: ENSP00000393916   ⟸   ENST00000441703
RefSeq Acc Id: ENSP00000495932   ⟸   ENST00000480525
RefSeq Acc Id: ENSP00000402751   ⟸   ENST00000443563
RefSeq Acc Id: ENSP00000397697   ⟸   ENST00000430858
RefSeq Acc Id: ENSP00000494293   ⟸   ENST00000642405
RefSeq Acc Id: ENSP00000496046   ⟸   ENST00000643374
RefSeq Acc Id: ENSP00000495872   ⟸   ENST00000486665
RefSeq Acc Id: ENSP00000494503   ⟸   ENST00000643934
RefSeq Acc Id: ENSP00000496013   ⟸   ENST00000644068
RefSeq Acc Id: ENSP00000494007   ⟸   ENST00000645643
RefSeq Acc Id: ENSP00000493921   ⟸   ENST00000646703
RefSeq Acc Id: ENSP00000496207   ⟸   ENST00000489352
RefSeq Acc Id: ENSP00000494230   ⟸   ENST00000647398
RefSeq Acc Id: ENSP00000496032   ⟸   ENST00000461608
RefSeq Acc Id: ENSP00000495151   ⟸   ENST00000476625
Protein Domains
Hist_deacetyl   UBP-type

Promoters
RGD ID:6808925
Promoter ID:HG_KWN:66705
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:ENST00000376610,   ENST00000376619,   ENST00000376643,   OTTHUMT00000083394,   OTTHUMT00000083395,   OTTHUMT00000083398,   OTTHUMT00000083402,   OTTHUMT00000083408,   OTTHUMT00000318631,   OTTHUMT00000318632,   OTTHUMT00000318633,   OTTHUMT00000318635,   OTTHUMT00000318636,   OTTHUMT00000318638,   OTTHUMT00000318639,   OTTHUMT00000318640,   OTTHUMT00000318641,   OTTHUMT00000318642,   OTTHUMT00000318643,   UC004DKR.1,   UC004DKU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,544,186 - 48,545,762 (+)MPROMDB
RGD ID:6808906
Promoter ID:HG_KWN:66706
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000083403
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,548,591 - 48,549,091 (+)MPROMDB
RGD ID:6808908
Promoter ID:HG_KWN:66708
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000318630
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,561,789 - 48,562,289 (+)MPROMDB
RGD ID:6808907
Promoter ID:HG_KWN:66709
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000083409
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,566,634 - 48,567,134 (+)MPROMDB
RGD ID:13605246
Promoter ID:EPDNEW_H28807
Type:initiation region
Name:HDAC6_2
Description:histone deacetylase 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28808  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,801,396 - 48,801,456EPDNEW
RGD ID:13605248
Promoter ID:EPDNEW_H28808
Type:initiation region
Name:HDAC6_1
Description:histone deacetylase 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28807  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,802,082 - 48,802,142EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_006044.4(HDAC6):c.*282A>T single nucleotide variant Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia [RCV000055614] ChrX:48824894 [GRCh38]
ChrX:48683304 [GRCh37]
ChrX:Xp11.23
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 Xp22.33-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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp22.33-11.21(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 Xp22.33-11.1(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-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
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
NM_006044.4(HDAC6):c.2788G>C (p.Gly930Arg) single nucleotide variant not provided [RCV000514289] ChrX:48823187 [GRCh38]
ChrX:48681597 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
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 Xp22.33-11.22(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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.33-11.23(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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 Xp22.33-11.22(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)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 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 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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
NM_006044.4(HDAC6):c.1538G>A (p.Arg513His) single nucleotide variant Abnormality of neuronal migration [RCV000201389] ChrX:48816185 [GRCh38]
ChrX:48674592 [GRCh37]
ChrX:Xp11.23
uncertain significance
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
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 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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: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 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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 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:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006044.4(HDAC6):c.3132A>G (p.Ile1044Met) single nucleotide variant not provided [RCV000513752] ChrX:48823531 [GRCh38]
ChrX:48681941 [GRCh37]
ChrX:Xp11.23
likely benign
NC_000023.10:g.(?_48542223)_(48768933_?)dup duplication SLC35A2-CDG [RCV000651314] ChrX:48542223..48768933 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_006044.4(HDAC6):c.3248G>A (p.Gly1083Asp) single nucleotide variant not provided [RCV000515014] ChrX:48823730 [GRCh38]
ChrX:48682140 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
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
NM_006044.4(HDAC6):c.2659T>C (p.Phe887Leu) single nucleotide variant not provided [RCV000660477] ChrX:48823058 [GRCh38]
ChrX:48681468 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006044.4(HDAC6):c.1374C>T (p.Ser458=) single nucleotide variant not provided [RCV000918613] ChrX:48815933 [GRCh38]
ChrX:48674340 [GRCh37]
ChrX:Xp11.23
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_006044.4(HDAC6):c.432T>C (p.Val144=) single nucleotide variant not provided [RCV000906658] ChrX:48805666 [GRCh38]
ChrX:48664073 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.223-10T>C single nucleotide variant not provided [RCV000884923] ChrX:48803118 [GRCh38]
ChrX:48661525 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.2786T>C (p.Ile929Thr) single nucleotide variant not provided [RCV000950499] ChrX:48823185 [GRCh38]
ChrX:48681595 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.1884G>A (p.Val628=) single nucleotide variant not provided [RCV000925333] ChrX:48817418 [GRCh38]
ChrX:48675825 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.591G>A (p.Ala197=) single nucleotide variant not provided [RCV000970736] ChrX:48806665 [GRCh38]
ChrX:48665072 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.3039A>G (p.Pro1013=) single nucleotide variant not provided [RCV000879482] ChrX:48823438 [GRCh38]
ChrX:48681848 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.570T>A (p.Ser190=) single nucleotide variant not provided [RCV000930936] ChrX:48806644 [GRCh38]
ChrX:48665051 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.3155G>A (p.Ser1052Asn) single nucleotide variant not provided [RCV000908491] ChrX:48823554 [GRCh38]
ChrX:48681964 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.1800T>C (p.Asn600=) single nucleotide variant not provided [RCV000939319] ChrX:48817334 [GRCh38]
ChrX:48675741 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.1560C>T (p.Ala520=) single nucleotide variant not provided [RCV000922319] ChrX:48816207 [GRCh38]
ChrX:48674614 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.384C>T (p.Cys128=) single nucleotide variant not provided [RCV000880780] ChrX:48805510 [GRCh38]
ChrX:48663917 [GRCh37]
ChrX:Xp11.23
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_006044.4(HDAC6):c.1059+6G>C single nucleotide variant not provided [RCV000938151] ChrX:48814899 [GRCh38]
ChrX:48673306 [GRCh37]
ChrX:Xp11.23
likely benign
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
NM_006044.4(HDAC6):c.3074C>T (p.Ser1025Leu) single nucleotide variant not provided [RCV000891827] ChrX:48823473 [GRCh38]
ChrX:48681883 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.1332C>G (p.Thr444=) single nucleotide variant not provided [RCV000978522] ChrX:48815891 [GRCh38]
ChrX:48674298 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.1956C>T (p.His652=) single nucleotide variant not provided [RCV000915497] ChrX:48818071 [GRCh38]
ChrX:48676478 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.2721G>A (p.Gln907=) single nucleotide variant not provided [RCV000916996] ChrX:48823120 [GRCh38]
ChrX:48681530 [GRCh37]
ChrX:Xp11.23
likely benign
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_006044.4(HDAC6):c.737+9C>A single nucleotide variant not provided [RCV000893475] ChrX:48808146 [GRCh38]
ChrX:48666553 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
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-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:48491182-48772769)x3 copy number gain not provided [RCV000845674] ChrX:48491182..48772769 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006044.4(HDAC6):c.1794T>G (p.Val598=) single nucleotide variant not provided [RCV000886691] ChrX:48817328 [GRCh38]
ChrX:48675735 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.765C>T (p.His255=) single nucleotide variant not provided [RCV000908563] ChrX:48808285 [GRCh38]
ChrX:48666692 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.3153G>A (p.Gly1051=) single nucleotide variant not provided [RCV000910204] ChrX:48823552 [GRCh38]
ChrX:48681962 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.3051G>A (p.Glu1017=) single nucleotide variant not provided [RCV000907586] ChrX:48823450 [GRCh38]
ChrX:48681860 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.3411A>G (p.Gly1137=) single nucleotide variant not provided [RCV000913611] ChrX:48824029 [GRCh38]
ChrX:48682439 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006044.4(HDAC6):c.1833C>T (p.His611=) single nucleotide variant not provided [RCV000912412] ChrX:48817367 [GRCh38]
ChrX:48675774 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.513C>T (p.Tyr171=) single nucleotide variant not provided [RCV000890227] ChrX:48806443 [GRCh38]
ChrX:48664850 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.2667A>G (p.Glu889=) single nucleotide variant not provided [RCV000890116] ChrX:48823066 [GRCh38]
ChrX:48681476 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.3087C>T (p.His1029=) single nucleotide variant not provided [RCV000912413] ChrX:48823486 [GRCh38]
ChrX:48681896 [GRCh37]
ChrX:Xp11.23
benign
NM_006044.4(HDAC6):c.2090C>T (p.Thr697Ile) single nucleotide variant Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia [RCV001198391] ChrX:48818315 [GRCh38]
ChrX:48676722 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_006044.4(HDAC6):c.3190G>A (p.Gly1064Arg) single nucleotide variant Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia [RCV001334494] ChrX:48823672 [GRCh38]
ChrX:48682082 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14064 AgrOrtholog
COSMIC HDAC6 COSMIC
Ensembl Genes ENSG00000094631 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000334061 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365795 UniProtKB/TrEMBL
  ENSP00000365804 UniProtKB/Swiss-Prot
  ENSP00000365831 UniProtKB/TrEMBL
  ENSP00000392815 UniProtKB/TrEMBL
  ENSP00000393916 UniProtKB/TrEMBL
  ENSP00000394377 UniProtKB/TrEMBL
  ENSP00000397697 UniProtKB/TrEMBL
  ENSP00000402751 UniProtKB/TrEMBL
  ENSP00000403370 UniProtKB/TrEMBL
  ENSP00000493921 UniProtKB/TrEMBL
  ENSP00000494007 UniProtKB/TrEMBL
  ENSP00000494230 UniProtKB/TrEMBL
  ENSP00000494293 UniProtKB/TrEMBL
  ENSP00000494447 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494503 UniProtKB/TrEMBL
  ENSP00000495151 UniProtKB/TrEMBL
  ENSP00000495872 UniProtKB/TrEMBL
  ENSP00000495932 UniProtKB/TrEMBL
  ENSP00000496013 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496032 UniProtKB/TrEMBL
  ENSP00000496046 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496207 UniProtKB/TrEMBL
  ENSP00000496727 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000334136 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376610 UniProtKB/TrEMBL
  ENST00000376619 UniProtKB/Swiss-Prot
  ENST00000376643 UniProtKB/TrEMBL
  ENST00000423941 UniProtKB/TrEMBL
  ENST00000430858 UniProtKB/TrEMBL
  ENST00000438518 UniProtKB/TrEMBL
  ENST00000440653 UniProtKB/TrEMBL
  ENST00000441703 UniProtKB/TrEMBL
  ENST00000443563 UniProtKB/TrEMBL
  ENST00000461608 UniProtKB/TrEMBL
  ENST00000462730 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000465269 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000476625 UniProtKB/TrEMBL
  ENST00000480525 UniProtKB/TrEMBL
  ENST00000486665 UniProtKB/TrEMBL
  ENST00000489352 UniProtKB/TrEMBL
  ENST00000642405 UniProtKB/TrEMBL
  ENST00000643374 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000643934 UniProtKB/TrEMBL
  ENST00000644068 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645643 UniProtKB/TrEMBL
  ENST00000646703 UniProtKB/TrEMBL
  ENST00000647398 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.800.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000094631 GTEx
HGNC ID HGNC:14064 ENTREZGENE
Human Proteome Map HDAC6 Human Proteome Map
InterPro His_deacetylse UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_deacetylse_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_deacetylse_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ureohydrolase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_UBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10013 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10013 ENTREZGENE
OMIM 300272 OMIM
  300863 OMIM
Pfam Hist_deacetyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-UBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29231 PharmGKB
PRINTS HDASUPER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ZF_UBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_UBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52768 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZ26 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y4G2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y559_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5Z4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6Z9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y758_HUMAN UniProtKB/TrEMBL
  A0A2R8YCS4_HUMAN UniProtKB/TrEMBL
  A0A2R8YD35_HUMAN UniProtKB/TrEMBL
  A0A2R8YDE6_HUMAN UniProtKB/TrEMBL
  A0A2R8YGC5_HUMAN UniProtKB/TrEMBL
  A6NDI8_HUMAN UniProtKB/TrEMBL
  B4DZH6 ENTREZGENE, UniProtKB/TrEMBL
  C9J172_HUMAN UniProtKB/TrEMBL
  C9JEF4_HUMAN UniProtKB/TrEMBL
  E7EP63_HUMAN UniProtKB/TrEMBL
  E7ER52_HUMAN UniProtKB/TrEMBL
  H7C0Z9_HUMAN UniProtKB/TrEMBL
  HDAC6_HUMAN UniProtKB/Swiss-Prot
  Q9BRX7 ENTREZGENE, UniProtKB/TrEMBL
  Q9NSW6 ENTREZGENE, UniProtKB/TrEMBL
  Q9UBN7 ENTREZGENE
UniProt Secondary E9PEH1 UniProtKB/TrEMBL
  O94975 UniProtKB/Swiss-Prot
  Q6NT75 UniProtKB/Swiss-Prot
  Q7L3E5 UniProtKB/Swiss-Prot
  Q96CY0 UniProtKB/Swiss-Prot