ARHGEF10 (Rho guanine nucleotide exchange factor 10) - Rat Genome Database
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Gene: ARHGEF10 (Rho guanine nucleotide exchange factor 10) Homo sapiens
Analyze
Symbol: ARHGEF10
Name: Rho guanine nucleotide exchange factor 10
RGD ID: 1346816
HGNC Page HGNC
Description: Exhibits Rho guanyl-nucleotide exchange factor activity and kinesin binding activity. Involved in several processes, including activation of GTPase activity; microtubule cytoskeleton organization; and positive regulation of stress fiber assembly. Localizes to centrosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686H0726; GEF10; MGC131664; Rho guanine nucleotide exchange factor (GEF) 10; SNCV
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 Ensembl81,823,926 - 1,958,641 (+)EnsemblGRCh38hg38GRCh38
GRCh3881,823,926 - 1,958,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3781,772,092 - 1,906,807 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh3781,772,149 - 1,906,807 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3681,759,556 - 1,894,214 (+)NCBINCBI36hg18NCBI36
Build 3481,808,165 - 1,894,206NCBI
Celera81,715,545 - 1,849,273 (+)NCBI
Cytogenetic Map8p23.3NCBI
HuRef81,586,197 - 1,723,095 (+)NCBIHuRef
CHM1_181,772,104 - 1,906,332 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IBA,IDA,IEA)
cytosol  (IEA,NAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9205841   PMID:9314494   PMID:12168954   PMID:12477932   PMID:14508709   PMID:15146197   PMID:15489334   PMID:16896804   PMID:17893707   PMID:19615732   PMID:19635168   PMID:20042462  
PMID:20379614   PMID:21719701   PMID:21743172   PMID:21873635   PMID:22863883   PMID:23412934   PMID:25343990   PMID:26143528   PMID:26186194   PMID:26760575   PMID:27550519   PMID:27934548  
PMID:28448737   PMID:28514442   PMID:29246731   PMID:29507755   PMID:29568061   PMID:30021884   PMID:31372216   PMID:31477830   PMID:32203420   PMID:32296183  


Genomics

Comparative Map Data
ARHGEF10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl81,823,926 - 1,958,641 (+)EnsemblGRCh38hg38GRCh38
GRCh3881,823,926 - 1,958,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3781,772,092 - 1,906,807 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh3781,772,149 - 1,906,807 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3681,759,556 - 1,894,214 (+)NCBINCBI36hg18NCBI36
Build 3481,808,165 - 1,894,206NCBI
Celera81,715,545 - 1,849,273 (+)NCBI
Cytogenetic Map8p23.3NCBI
HuRef81,586,197 - 1,723,095 (+)NCBIHuRef
CHM1_181,772,104 - 1,906,332 (+)NCBICHM1_1
Arhgef10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39814,956,405 - 15,051,085 (+)NCBIGRCm39mm39
GRCm38814,906,412 - 15,001,085 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl814,911,663 - 15,001,085 (+)EnsemblGRCm38mm10GRCm38
MGSCv37814,911,717 - 15,001,085 (+)NCBIGRCm37mm9NCBIm37
MGSCv36814,928,877 - 15,000,415 (+)NCBImm8
Celera815,075,995 - 15,165,401 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
Arhgef10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21674,647,147 - 74,738,784 (-)NCBI
Rnor_6.0 Ensembl1679,725,643 - 79,793,619 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01679,725,629 - 79,817,065 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01679,302,340 - 79,392,426 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41679,458,304 - 79,547,225 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1672,465,044 - 72,554,359 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Arhgef10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540357,818,837 - 57,907,324 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540357,820,003 - 57,907,324 (-)NCBIChiLan1.0ChiLan1.0
ARHGEF10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.181,747,801 - 1,862,917 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl81,724,413 - 1,862,917 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v085,381,357 - 5,541,094 (-)NCBIMhudiblu_PPA_v0panPan3
ARHGEF10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1654,293,435 - 54,347,555 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11654,293,534 - 54,378,706 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Arhgef10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366151,012,009 - 1,103,468 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGEF10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11533,370,093 - 33,465,852 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21537,931,757 - 37,986,440 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGEF10
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.181,487,076 - 1,620,387 (+)NCBI
ChlSab1.1 Ensembl81,502,226 - 1,620,389 (+)Ensembl
Arhgef10
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624861992,824 - 1,083,048 (+)NCBI

Position Markers
AF009206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,805,973 - 1,806,112UniSTSGRCh37
Build 3681,793,380 - 1,793,519RGDNCBI36
Celera81,749,179 - 1,749,317RGD
Cytogenetic Map8p23UniSTS
HuRef81,621,957 - 1,622,092UniSTS
RH98569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,816,952 - 1,817,092UniSTSGRCh37
Build 3681,804,359 - 1,804,499RGDNCBI36
Celera81,760,089 - 1,760,229RGD
Cytogenetic Map8p23UniSTS
HuRef81,633,025 - 1,633,165UniSTS
GeneMap99-GB4 RH Map820.61UniSTS
RH92255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,855,676 - 1,855,798UniSTSGRCh37
Build 3681,843,083 - 1,843,205RGDNCBI36
Celera81,798,569 - 1,798,691RGD
Cytogenetic Map8p23UniSTS
HuRef81,672,032 - 1,672,154UniSTS
GeneMap99-GB4 RH Map817.67UniSTS
SHGC-81479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,859,397 - 1,859,698UniSTSGRCh37
Build 3681,846,804 - 1,847,105RGDNCBI36
Celera81,802,289 - 1,802,590RGD
Cytogenetic Map8p23UniSTS
HuRef81,675,762 - 1,676,063UniSTS
TNG Radiation Hybrid Map8697.0UniSTS
RH119618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,871,829 - 1,872,023UniSTSGRCh37
Build 3681,859,236 - 1,859,430RGDNCBI36
Celera81,814,578 - 1,814,772RGD
Cytogenetic Map8p23UniSTS
HuRef81,688,190 - 1,688,384UniSTS
TNG Radiation Hybrid Map8681.0UniSTS
G63133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,843,099 - 1,843,399UniSTSGRCh37
Build 3681,830,506 - 1,830,806RGDNCBI36
Celera81,785,991 - 1,786,291RGD
Cytogenetic Map8p23UniSTS
HuRef81,659,454 - 1,659,754UniSTS
TNG Radiation Hybrid Map8702.0UniSTS
WI-11694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,906,687 - 1,906,788UniSTSGRCh37
Build 3681,894,094 - 1,894,195RGDNCBI36
Celera81,849,153 - 1,849,254RGD
Cytogenetic Map8p23UniSTS
HuRef81,722,975 - 1,723,076UniSTS
GeneMap99-GB4 RH Map820.03UniSTS
Whitehead-RH Map816.8UniSTS
NCBI RH Map820.6UniSTS
RH79054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,868,782 - 1,868,864UniSTSGRCh37
Build 3681,856,189 - 1,856,271RGDNCBI36
Celera81,811,530 - 1,811,612RGD
Cytogenetic Map8p23UniSTS
HuRef81,685,142 - 1,685,224UniSTS
GeneMap99-GB4 RH Map820.61UniSTS
AF009214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,814,540 - 1,814,767UniSTSGRCh37
Build 3681,801,947 - 1,802,174RGDNCBI36
Celera81,757,679 - 1,757,904RGD
Cytogenetic Map8p23UniSTS
HuRef81,630,638 - 1,630,861UniSTS
AF009213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,840,434 - 1,840,687UniSTSGRCh37
Build 3681,827,841 - 1,828,094RGDNCBI36
Celera81,783,331 - 1,783,580RGD
Cytogenetic Map8p23UniSTS
HuRef81,656,792 - 1,657,043UniSTS
ARHGEF10_3936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,906,107 - 1,906,819UniSTSGRCh37
Build 3681,893,514 - 1,894,226RGDNCBI36
Celera81,848,573 - 1,849,285RGD
HuRef81,722,395 - 1,723,107UniSTS
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
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
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

Predicted Target Of
Summary Value
Count of predictions:4801
Count of miRNA genes:1075
Interacting mature miRNAs:1307
Transcripts:ENST00000262112, ENST00000349830, ENST00000382795, ENST00000398560, ENST00000398564, ENST00000518288, ENST00000519641, ENST00000520359, ENST00000520972, ENST00000521927, ENST00000522435, ENST00000522969, ENST00000523596, ENST00000523711, ENST00000523980, ENST00000524212
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1899 1668 937 145 198 12 3428 1008 1967 165 1233 1426 143 1181 1939 1
Low 507 723 735 427 673 401 927 1178 1735 248 211 169 28 23 849 3
Below cutoff 24 593 38 36 761 37 3 12 4 5 12

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA758332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB002292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF009205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI348138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN307765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ766815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000349830   ⟹   ENSP00000340297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,823,926 - 1,958,641 (+)Ensembl
RefSeq Acc Id: ENST00000382795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,858,755 - 1,869,280 (+)Ensembl
RefSeq Acc Id: ENST00000398560   ⟹   ENSP00000381568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,858,755 - 1,904,096 (+)Ensembl
RefSeq Acc Id: ENST00000398564   ⟹   ENSP00000381571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,826,111 - 1,958,633 (+)Ensembl
RefSeq Acc Id: ENST00000518288   ⟹   ENSP00000431012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,824,015 - 1,958,641 (+)Ensembl
RefSeq Acc Id: ENST00000519641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,923,196 - 1,923,874 (+)Ensembl
RefSeq Acc Id: ENST00000520359   ⟹   ENSP00000427909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,823,988 - 1,958,641 (+)Ensembl
RefSeq Acc Id: ENST00000520972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,859,894 - 1,904,110 (+)Ensembl
RefSeq Acc Id: ENST00000521927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,943,654 - 1,957,205 (+)Ensembl
RefSeq Acc Id: ENST00000522435   ⟹   ENSP00000427768
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,882,656 - 1,958,639 (+)Ensembl
RefSeq Acc Id: ENST00000522969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,859,915 - 1,871,131 (+)Ensembl
RefSeq Acc Id: ENST00000523596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,943,594 - 1,952,774 (+)Ensembl
RefSeq Acc Id: ENST00000523711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,876,051 - 1,927,513 (+)Ensembl
RefSeq Acc Id: ENST00000523980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,943,595 - 1,945,919 (+)Ensembl
RefSeq Acc Id: ENST00000524212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl81,904,235 - 1,923,490 (+)Ensembl
RefSeq Acc Id: NM_001308152   ⟹   NP_001295081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
CHM1_181,772,104 - 1,906,332 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308153   ⟹   NP_001295082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
CHM1_181,772,104 - 1,906,332 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014629   ⟹   NP_055444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
GRCh3781,772,149 - 1,906,807 (+)RGD
Build 3681,759,556 - 1,894,214 (+)NCBI Archive
Celera81,715,545 - 1,849,273 (+)RGD
HuRef81,586,197 - 1,723,095 (+)RGD
CHM1_181,772,104 - 1,906,332 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266041   ⟹   XP_005266098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,997 - 1,958,448 (+)NCBI
GRCh3781,772,149 - 1,906,807 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534767   ⟹   XP_011533069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,958,448 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534768   ⟹   XP_011533070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,958,641 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534770   ⟹   XP_011533072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,947,633 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014003   ⟹   XP_016869492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,826,096 - 1,958,448 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447334   ⟹   XP_024303102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,958,641 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447335   ⟹   XP_024303103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,841,612 - 1,958,448 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055444   ⟸   NM_014629
- Peptide Label: isoform 1
- UniProtKB: O15013 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266098   ⟸   XM_005266041
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011533070   ⟸   XM_011534768
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011533069   ⟸   XM_011534767
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011533072   ⟸   XM_011534770
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001295082   ⟸   NM_001308153
- Peptide Label: isoform 3
- UniProtKB: O15013 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295081   ⟸   NM_001308152
- Peptide Label: isoform 2
- UniProtKB: O15013 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869492   ⟸   XM_017014003
- Peptide Label: isoform X3
- UniProtKB: O15013 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303103   ⟸   XM_024447335
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303102   ⟸   XM_024447334
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000381568   ⟸   ENST00000398560
RefSeq Acc Id: ENSP00000381571   ⟸   ENST00000398564
RefSeq Acc Id: ENSP00000431012   ⟸   ENST00000518288
RefSeq Acc Id: ENSP00000340297   ⟸   ENST00000349830
RefSeq Acc Id: ENSP00000427909   ⟸   ENST00000520359
RefSeq Acc Id: ENSP00000427768   ⟸   ENST00000522435
Protein Domains
DH

Promoters
RGD ID:6806502
Promoter ID:HG_KWN:60530
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:ENST00000349830,   ENST00000382794,   ENST00000398560,   UC003WPQ.1,   UC003WPS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3681,759,064 - 1,759,564 (+)MPROMDB
RGD ID:7212519
Promoter ID:EPDNEW_H12001
Type:initiation region
Name:ARHGEF10_1
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,947 - 1,824,007EPDNEW
RGD ID:7212511
Promoter ID:EPDNEW_H12002
Type:initiation region
Name:ARHGEF10_6
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,824,076 - 1,824,136EPDNEW
RGD ID:7212513
Promoter ID:EPDNEW_H12003
Type:initiation region
Name:ARHGEF10_7
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,832,799 - 1,832,859EPDNEW
RGD ID:7212515
Promoter ID:EPDNEW_H12004
Type:initiation region
Name:ARHGEF10_5
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,858,775 - 1,858,835EPDNEW
RGD ID:7212517
Promoter ID:EPDNEW_H12005
Type:initiation region
Name:ARHGEF10_8
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,926,465 - 1,926,525EPDNEW
RGD ID:7212535
Promoter ID:EPDNEW_H12006
Type:initiation region
Name:ARHGEF10_9
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,928,604 - 1,928,664EPDNEW
RGD ID:7212521
Promoter ID:EPDNEW_H12007
Type:multiple initiation site
Name:ARHGEF10_10
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,945,590 - 1,945,650EPDNEW
RGD ID:7212523
Promoter ID:EPDNEW_H12008
Type:initiation region
Name:ARHGEF10_4
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,952,693 - 1,952,753EPDNEW
RGD ID:7212525
Promoter ID:EPDNEW_H12009
Type:initiation region
Name:ARHGEF10_11
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,957,028 - 1,957,088EPDNEW
RGD ID:7212527
Promoter ID:EPDNEW_H12010
Type:initiation region
Name:ARHGEF10_3
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,957,388 - 1,957,448EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000521194] Chr8:1858055 [GRCh38]
Chr8:1806221 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000002634] Chr8:1882669 [GRCh38]
Chr8:1830835 [GRCh37]
Chr8:8p23.3
pathogenic
NM_014629.4(ARHGEF10):c.193G>A (p.Gly65Arg) single nucleotide variant not provided [RCV000520161] Chr8:1858115 [GRCh38]
Chr8:1806281 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh38/hg38 8p23.3(chr8:244617-2017223)x1 copy number loss See cases [RCV000050296] Chr8:244617..2017223 [GRCh38]
Chr8:194617..1965389 [GRCh37]
Chr8:184617..2121457 [NCBI36]
Chr8:8p23.3
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000050621] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 copy number loss See cases [RCV000050427] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:1891352-3929104)x1 copy number loss See cases [RCV000052748] Chr8:1891352..3929104 [GRCh38]
Chr8:1839518..3786626 [GRCh37]
Chr8:1826925..3774034 [NCBI36]
Chr8:8p23.3-23.2
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 copy number gain See cases [RCV000053601] Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3(chr8:202100-2017223)x1 copy number loss See cases [RCV000054204] Chr8:202100..2017223 [GRCh38]
Chr8:152100..1965389 [GRCh37]
Chr8:142100..2111713 [NCBI36]
Chr8:8p23.3
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1 copy number loss See cases [RCV000054205] Chr8:219853..3814398 [GRCh38]
Chr8:169853..3671920 [GRCh37]
Chr8:159853..3659328 [NCBI36]
Chr8:8p23.3-23.2
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1 copy number loss See cases [RCV000054206] Chr8:219853..7084815 [GRCh38]
Chr8:169853..6942337 [GRCh37]
Chr8:159853..6929747 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3(chr8:241330-1847998)x1 copy number loss See cases [RCV000054208] Chr8:241330..1847998 [GRCh38]
Chr8:191330..1796164 [GRCh37]
Chr8:181330..1783571 [NCBI36]
Chr8:8p23.3
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1 copy number loss See cases [RCV000054219] Chr8:241530..7195723 [GRCh38]
Chr8:191530..7053245 [GRCh37]
Chr8:181530..7040655 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1 copy number loss See cases [RCV000054220] Chr8:241530..3701826 [GRCh38]
Chr8:191530..3559348 [GRCh37]
Chr8:181530..3546756 [NCBI36]
Chr8:8p23.3-23.2
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-4929678)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054221]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054221]|See cases [RCV000054221] Chr8:241530..4929678 [GRCh38]
Chr8:191530..4787200 [GRCh37]
Chr8:181530..4774608 [NCBI36]
Chr8:8p23.3-23.2
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-4388060)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054223]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054223]|See cases [RCV000054223] Chr8:241530..4388060 [GRCh38]
Chr8:191530..4245582 [GRCh37]
Chr8:181530..4232990 [NCBI36]
Chr8:8p23.3-23.2
pathogenic
GRCh38/hg38 8p23.3(chr8:1739267-1891412)x1 copy number loss See cases [RCV000054224] Chr8:1739267..1891412 [GRCh38]
Chr8:1687433..1839578 [GRCh37]
Chr8:1674840..1826985 [NCBI36]
Chr8:8p23.3
pathogenic
NM_014629.2(ARHGEF10):c.2253C>T (p.Asn751=) single nucleotide variant Malignant melanoma [RCV000068231] Chr8:1923073 [GRCh38]
Chr8:1871239 [GRCh37]
Chr8:1858646 [NCBI36]
Chr8:8p23.3
not provided
NM_014629.2(ARHGEF10):c.*894G>C single nucleotide variant Lung cancer [RCV000107258] Chr8:1958157 [GRCh38]
Chr8:1906323 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.3869C>T (p.Ser1290Leu) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001285987] Chr8:1957097 [GRCh38]
Chr8:1905263 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000144884]|not provided [RCV000144070] Chr8:1882687 [GRCh38]
Chr8:1830853 [GRCh37]
Chr8:8p23.3
likely pathogenic|uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000144885]|not provided [RCV000755828] Chr8:1923017 [GRCh38]
Chr8:1871183 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1 copy number loss See cases [RCV000135293] Chr8:410369..7477103 [GRCh38]
Chr8:360369..7334625 [GRCh37]
Chr8:350369..7322035 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 copy number loss See cases [RCV000134879] Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1 copy number loss See cases [RCV000134919] Chr8:241530..3212774 [GRCh38]
Chr8:191530..3070296 [GRCh37]
Chr8:181530..3057703 [NCBI36]
Chr8:8p23.3-23.2
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3 copy number gain See cases [RCV000135437] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 copy number loss See cases [RCV000135534] Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3 copy number gain See cases [RCV000135993] Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1 copy number loss See cases [RCV000135994] Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1 copy number loss See cases [RCV000136824] Chr8:241530..7056554 [GRCh38]
Chr8:191530..6914076 [GRCh37]
Chr8:181530..6901486 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1 copy number loss See cases [RCV000136737] Chr8:241530..3331813 [GRCh38]
Chr8:191530..3189335 [GRCh37]
Chr8:181530..3176742 [NCBI36]
Chr8:8p23.3-23.2
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1 copy number loss See cases [RCV000137258] Chr8:226452..3189683 [GRCh38]
Chr8:176452..3047205 [GRCh37]
Chr8:166452..3034612 [NCBI36]
Chr8:8p23.3-23.2
likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 copy number gain See cases [RCV000137206] Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1
benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 copy number gain See cases [RCV000138228] Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1
pathogenic|likely benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1 copy number loss See cases [RCV000139342] Chr8:226452..7062751 [GRCh38]
Chr8:176452..6920273 [GRCh37]
Chr8:166452..6907683 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1 copy number loss See cases [RCV000139442] Chr8:226452..7084815 [GRCh38]
Chr8:176452..6942337 [GRCh37]
Chr8:166452..6929747 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:226452-2767932)x1 copy number loss See cases [RCV000139034] Chr8:226452..2767932 [GRCh38]
Chr8:176452..2625470 [GRCh37]
Chr8:166452..2612877 [NCBI36]
Chr8:8p23.3-23.2
likely pathogenic|uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1 copy number loss See cases [RCV000140443] Chr8:208048..7124466 [GRCh38]
Chr8:158048..6981988 [GRCh37]
Chr8:148048..6969398 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1 copy number loss See cases [RCV000139890] Chr8:208048..7141592 [GRCh38]
Chr8:158048..6999114 [GRCh37]
Chr8:148048..6986524 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3(chr8:1786547-1944616)x3 copy number gain See cases [RCV000141290] Chr8:1786547..1944616 [GRCh38]
Chr8:1734713..1892782 [GRCh37]
Chr8:1722120..1880189 [NCBI36]
Chr8:8p23.3
uncertain significance
GRCh38/hg38 8p23.3(chr8:1822990-1874458)x3 copy number gain See cases [RCV000141305] Chr8:1822990..1874458 [GRCh38]
Chr8:1771156..1822624 [GRCh37]
Chr8:1758563..1810031 [NCBI36]
Chr8:8p23.3
uncertain significance
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22
pathogenic
GRCh38/hg38 8p23.3(chr8:226452-2017223)x1 copy number loss See cases [RCV000140845] Chr8:226452..2017223 [GRCh38]
Chr8:176452..1965389 [GRCh37]
Chr8:166452..2121457 [NCBI36]
Chr8:8p23.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1 copy number loss See cases [RCV000142811] Chr8:226452..4316172 [GRCh38]
Chr8:176452..4173694 [GRCh37]
Chr8:166452..4161102 [NCBI36]
Chr8:8p23.3-23.2
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 copy number loss See cases [RCV000142596] Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3 copy number gain See cases [RCV000143378] Chr8:208048..7141698 [GRCh38]
Chr8:158048..6999220 [GRCh37]
Chr8:148048..6986630 [NCBI36]
Chr8:8p23.3-23.1
uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4 copy number gain See cases [RCV000143758] Chr8:208048..7186524 [GRCh38]
Chr8:158048..7044046 [GRCh37]
Chr8:148048..7031456 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1 copy number loss See cases [RCV000143654] Chr8:208048..5615542 [GRCh38]
Chr8:158048..5473064 [GRCh37]
Chr8:148048..5460472 [NCBI36]
Chr8:8p23.3-23.2
likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1 copy number loss See cases [RCV000143507] Chr8:208048..7087252 [GRCh38]
Chr8:158048..6944774 [GRCh37]
Chr8:148048..6932184 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 copy number loss See cases [RCV000148128] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000148253] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3(chr8:244617-2017223)x1 copy number loss See cases [RCV000148251] Chr8:244617..2017223 [GRCh38]
Chr8:194617..1965389 [GRCh37]
Chr8:184617..2121457 [NCBI36]
Chr8:8p23.3
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 copy number gain See cases [RCV000240124] Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6944233)x1 copy number loss See cases [RCV000446038] Chr8:158048..6944233 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.831C>G (p.Asn277Lys) single nucleotide variant not provided [RCV000755829] Chr8:1876722 [GRCh38]
Chr8:1824888 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3(chr8:184617-2136799) copy number loss not provided [RCV000767675] Chr8:184617..2136799 [GRCh37]
Chr8:8p23.3
likely pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) copy number loss Tetralogy of Fallot [RCV000767677] Chr8:194617..7787444 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.1911A>G (p.Lys637=) single nucleotide variant not provided [RCV000757005] Chr8:1905660 [GRCh38]
Chr8:1853826 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789723]|Slowed nerve conduction velocity, autosomal dominant [RCV000757006] Chr8:1885635 [GRCh38]
Chr8:1833801 [GRCh37]
Chr8:8p23.3
benign|uncertain significance
NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000757007] Chr8:1885638 [GRCh38]
Chr8:1833804 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1884876-1993327)x4 copy number gain See cases [RCV000239960] Chr8:1884876..1993327 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3 copy number gain See cases [RCV000239409] Chr8:164984..11860845 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:190822-6735381)x1 copy number loss See cases [RCV000240454] Chr8:190822..6735381 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.2741C>T (p.Ser914Leu) single nucleotide variant not provided [RCV000521096] Chr8:1928470 [GRCh38]
Chr8:1876636 [GRCh37]
Chr8:8p23.3
uncertain significance
Single allele deletion not provided [RCV000768453] Chr8:155001..6955001 [GRCh37]
Chr8:8p23.3-23.1
likely pathogenic
NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000608905] Chr8:1869201 [GRCh38]
Chr8:1817367 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3398-16A>G single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000609339] Chr8:1952689 [GRCh38]
Chr8:1900855 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.2045C>T (p.Ala682Val) single nucleotide variant not specified [RCV000414710] Chr8:1909372 [GRCh38]
Chr8:1857538 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.2658C>A (p.Ser886Arg) single nucleotide variant not provided [RCV000415830] Chr8:1926424 [GRCh38]
Chr8:1874590 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.2748A>G (p.Gln916=) single nucleotide variant not provided [RCV000416175] Chr8:1928477 [GRCh38]
Chr8:1876643 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000415093] Chr8:1909390 [GRCh38]
Chr8:1857556 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6460877)x1 copy number loss See cases [RCV000449227] Chr8:158048..6460877 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:190822-6735327)x1 copy number loss See cases [RCV000446817] Chr8:190822..6735327 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:163166-6735327)x1 copy number loss See cases [RCV000447564] Chr8:163166..6735327 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014629.4(ARHGEF10):c.2134G>T (p.Ala712Ser) single nucleotide variant not specified [RCV000421442] Chr8:1909461 [GRCh38]
Chr8:1857627 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.3589C>T (p.His1197Tyr) single nucleotide variant not provided [RCV000430108] Chr8:1956817 [GRCh38]
Chr8:1904983 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.2768T>C (p.Ile923Thr) single nucleotide variant not provided [RCV000420362] Chr8:1928497 [GRCh38]
Chr8:1876663 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 copy number loss See cases [RCV000447872] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.3(chr8:1445011-1797072) copy number gain Abnormality of esophagus morphology [RCV000416706] Chr8:1445011..1797072 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1711955-2100729)x3 copy number gain See cases [RCV000447769] Chr8:1711955..2100729 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3 copy number gain See cases [RCV000448692] Chr8:1166068..12570914 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22
likely pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:158048-6004205)x1 copy number loss See cases [RCV000510446] Chr8:158048..6004205 [GRCh37]
Chr8:8p23.3-23.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014629.4(ARHGEF10):c.3403C>G (p.Gln1135Glu) single nucleotide variant not provided [RCV000497803] Chr8:1952710 [GRCh38]
Chr8:1900876 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6982980)x1 copy number loss See cases [RCV000510343] Chr8:158048..6982980 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.38-10T>C single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000625164]|not provided [RCV000959003] Chr8:1857950 [GRCh38]
Chr8:1806116 [GRCh37]
Chr8:8p23.3
benign|likely benign
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000625166] Chr8:1909425 [GRCh38]
Chr8:1857591 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x3 copy number gain See cases [RCV000511784] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1
uncertain significance
NM_014629.4(ARHGEF10):c.2728A>G (p.Ile910Val) single nucleotide variant not specified [RCV000507956] Chr8:1928457 [GRCh38]
Chr8:1876623 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1 copy number loss See cases [RCV000510827] Chr8:158048..9749574 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-7044046)x1 copy number loss See cases [RCV000511133] Chr8:158048..7044046 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014629.4(ARHGEF10):c.1075+13A>G single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000616940] Chr8:1882762 [GRCh38]
Chr8:1830928 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.2143+13T>G single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000603344] Chr8:1909483 [GRCh38]
Chr8:1857649 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251) copy number loss Intellectual disability [RCV000626543] Chr8:191530..6644251 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000625168]|not provided [RCV000892341] Chr8:1928541 [GRCh38]
Chr8:1876707 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.2259+8T>C single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000625167] Chr8:1923087 [GRCh38]
Chr8:1871253 [GRCh37]
Chr8:8p23.3
likely benign
GRCh37/hg19 8p23.3-23.2(chr8:1608588-2324956)x3 copy number gain See cases [RCV000512255] Chr8:1608588..2324956 [GRCh37]
Chr8:8p23.3-23.2
likely benign
NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000625165] Chr8:1858063 [GRCh38]
Chr8:1806229 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918) copy number loss Autistic disorder of childhood onset [RCV000626544] Chr8:194617..6816918 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.387A>G (p.Val129=) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000602920] Chr8:1860090 [GRCh38]
Chr8:1808256 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3-23.2(chr8:158048-5474927)x1 copy number loss See cases [RCV000512599] Chr8:158048..5474927 [GRCh37]
Chr8:8p23.3-23.2
pathogenic
NM_014629.4(ARHGEF10):c.3330T>G (p.Phe1110Leu) single nucleotide variant not provided [RCV000659093] Chr8:1945588 [GRCh38]
Chr8:1893754 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3(chr8:1668896-1924210)x3 copy number gain not provided [RCV000682961] Chr8:1668896..1924210 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3(chr8:1500844-1854917)x3 copy number gain not provided [RCV000682974] Chr8:1500844..1854917 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 copy number loss not provided [RCV000683032] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1 copy number loss not provided [RCV000683036] Chr8:158048..10939681 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1688011-3000081)x3 copy number gain not provided [RCV000683009] Chr8:1688011..3000081 [GRCh37]
Chr8:8p23.3-23.2
uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158048-4847772)x1 copy number loss not provided [RCV000683029] Chr8:158048..4847772 [GRCh37]
Chr8:8p23.3-23.2
pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3 copy number gain not provided [RCV000683034] Chr8:158048..9750676 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:158048-3096405)x3 copy number gain not provided [RCV000683022] Chr8:158048..3096405 [GRCh37]
Chr8:8p23.3-23.2
uncertain significance
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV000722105] Chr8:1903350 [GRCh38]
Chr8:1851516 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-8948469)x1 copy number loss not provided [RCV000747246] Chr8:10213..8948469 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-10197718)x1 copy number loss not provided [RCV000747247] Chr8:10213..10197718 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)x1 copy number loss not provided [RCV000747253] Chr8:164984..10007227 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3(chr8:1832844-1838167)x1 copy number loss not provided [RCV000747269] Chr8:1832844..1838167 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1832844-1838287)x0 copy number loss not provided [RCV000747270] Chr8:1832844..1838287 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1833801-1837837)x3 copy number gain not provided [RCV000747271] Chr8:1833801..1837837 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1833801-1837912)x0 copy number loss not provided [RCV000747272] Chr8:1833801..1837912 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1833801-1838038)x1 copy number loss not provided [RCV000747273] Chr8:1833801..1838038 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1833801-1838167)x1 copy number loss not provided [RCV000747274] Chr8:1833801..1838167 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1833801-1838287)x0 copy number loss not provided [RCV000747275] Chr8:1833801..1838287 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1836444-1838775)x1 copy number loss not provided [RCV000747276] Chr8:1836444..1838775 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1867207-1867867)x1 copy number loss not provided [RCV000747277] Chr8:1867207..1867867 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3(chr8:1905728-1937286)x3 copy number gain not provided [RCV000747278] Chr8:1905728..1937286 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3-23.2(chr8:1905728-2270852)x3 copy number gain not provided [RCV000747279] Chr8:1905728..2270852 [GRCh37]
Chr8:8p23.3-23.2
benign
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1 copy number loss not provided [RCV000762736] Chr8:176814..7753583 [GRCh37]
Chr8:8p23.3-23.1
likely pathogenic
NM_014629.4(ARHGEF10):c.3828A>G (p.Ser1276=) single nucleotide variant not provided [RCV000947091] Chr8:1957056 [GRCh38]
Chr8:1905222 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001001862]|not provided [RCV000900507] Chr8:1860177 [GRCh38]
Chr8:1808343 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3915G>A (p.Ser1305=) single nucleotide variant not provided [RCV000905999] Chr8:1957143 [GRCh38]
Chr8:1905309 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.1431C>T (p.Phe477=) single nucleotide variant not provided [RCV000885196] Chr8:1894563 [GRCh38]
Chr8:1842729 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3448A>G (p.Met1150Val) single nucleotide variant not provided [RCV000920881] Chr8:1952755 [GRCh38]
Chr8:1900921 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.2501A>G (p.His834Arg) single nucleotide variant not provided [RCV000880833] Chr8:1925295 [GRCh38]
Chr8:1873461 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3430G>T (p.Val1144Phe) single nucleotide variant not provided [RCV000880834] Chr8:1952737 [GRCh38]
Chr8:1900903 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter) single nucleotide variant Myopathy [RCV000984330] Chr8:1885606 [GRCh38]
Chr8:1833772 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.2755A>C (p.Thr919Pro) single nucleotide variant not provided [RCV000969220] Chr8:1928484 [GRCh38]
Chr8:1876650 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3973C>T (p.Pro1325Ser) single nucleotide variant not provided [RCV000967074] Chr8:1957201 [GRCh38]
Chr8:1905367 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3-22(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328) copy number gain not provided [RCV000767678] Chr8:184617..6804328 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.1440+10C>T single nucleotide variant not provided [RCV000954690] Chr8:1894582 [GRCh38]
Chr8:1842748 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.194-3del deletion not provided [RCV000895685] Chr8:1859891 [GRCh38]
Chr8:1808057 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3398-7C>T single nucleotide variant not provided [RCV000958985] Chr8:1952698 [GRCh38]
Chr8:1900864 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3018G>A (p.Thr1006=) single nucleotide variant not provided [RCV000897958] Chr8:1929382 [GRCh38]
Chr8:1877548 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.38-8_38-4del deletion not provided [RCV000880264] Chr8:1857948..1857952 [GRCh38]
Chr8:1806114..1806118 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3705T>C (p.Gly1235=) single nucleotide variant not provided [RCV000887412] Chr8:1956933 [GRCh38]
Chr8:1905099 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3648C>T (p.Asp1216=) single nucleotide variant not provided [RCV000895279] Chr8:1956876 [GRCh38]
Chr8:1905042 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3665C>T (p.Ala1222Val) single nucleotide variant not provided [RCV000998981] Chr8:1956893 [GRCh38]
Chr8:1905059 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:1570389-2202358)x3 copy number gain not provided [RCV000847661] Chr8:1570389..2202358 [GRCh37]
Chr8:8p23.3-23.2
uncertain significance
GRCh37/hg19 8p23.3(chr8:1501991-2132155)x3 copy number gain not provided [RCV000848720] Chr8:1501991..2132155 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22
pathogenic
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs) duplication Slowed nerve conduction velocity, autosomal dominant [RCV000785129] Chr8:1957191..1957192 [GRCh38]
Chr8:1905357..1905358 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.604A>C (p.Asn202His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789724] Chr8:1866584 [GRCh38]
Chr8:1814750 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.2097C>T (p.Ala699=) single nucleotide variant not provided [RCV000895686] Chr8:1909424 [GRCh38]
Chr8:1857590 [GRCh37]
Chr8:8p23.3
benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1 copy number loss not provided [RCV000847001] Chr8:158048..6984438 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1 copy number loss not provided [RCV000845663] Chr8:158048..9393052 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6828766)x1 copy number loss not provided [RCV000849211] Chr8:158048..6828766 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1854916-2281460)x3 copy number gain not provided [RCV000849022] Chr8:1854916..2281460 [GRCh37]
Chr8:8p23.3-23.2
uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:1854916-2281460)x3 copy number gain not provided [RCV000848627] Chr8:1854916..2281460 [GRCh37]
Chr8:8p23.3-23.2
uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158048-4188901)x1 copy number loss not provided [RCV001006044] Chr8:158048..4188901 [GRCh37]
Chr8:8p23.3-23.2
pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1848652-3051690)x3 copy number gain not provided [RCV001006049] Chr8:1848652..3051690 [GRCh37]
Chr8:8p23.3-23.2
uncertain significance
NM_014629.4(ARHGEF10):c.1845C>A (p.Tyr615Ter) single nucleotide variant not provided [RCV000998979] Chr8:1905594 [GRCh38]
Chr8:1853760 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.2583G>C (p.Val861=) single nucleotide variant not provided [RCV000998980] Chr8:1925377 [GRCh38]
Chr8:1873543 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6219809)x1 copy number loss not provided [RCV000849116] Chr8:158048..6219809 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3(chr8:1734758-1886029)x3 copy number gain not provided [RCV000846275] Chr8:1734758..1886029 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6940661)x1 copy number loss not provided [RCV000846153] Chr8:158048..6940661 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3 copy number gain not provided [RCV001006042] Chr8:158048..8102819 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1668896-2763888)x3 copy number gain not provided [RCV001006047] Chr8:1668896..2763888 [GRCh37]
Chr8:8p23.3-23.2
uncertain significance
NM_014629.4(ARHGEF10):c.541A>G (p.Thr181Ala) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001196131] Chr8:1864432 [GRCh38]
Chr8:1812598 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6969688)x1 copy number loss not provided [RCV000846342] Chr8:158048..6969688 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.1260+4C>T single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001001937]|not provided [RCV000975173] Chr8:1893650 [GRCh38]
Chr8:1841816 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001000266]|not provided [RCV000975174] Chr8:1909318 [GRCh38]
Chr8:1857484 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.38-9T>A single nucleotide variant not provided [RCV000963357] Chr8:1857951 [GRCh38]
Chr8:1806117 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.1631A>T (p.Gln544Leu) single nucleotide variant not provided [RCV000879746] Chr8:1898506 [GRCh38]
Chr8:1846672 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.1557+18del deletion not provided [RCV000953262] Chr8:1896458 [GRCh38]
Chr8:1844624 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3123C>A (p.Gly1041=) single nucleotide variant not provided [RCV000897959] Chr8:1933843 [GRCh38]
Chr8:1882009 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.482-4G>C single nucleotide variant not provided [RCV000899668] Chr8:1864369 [GRCh38]
Chr8:1812535 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.939C>G (p.Leu313=) single nucleotide variant not provided [RCV000977842] Chr8:1880143 [GRCh38]
Chr8:1828309 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.645T>C (p.Asp215=) single nucleotide variant not provided [RCV000910494] Chr8:1869216 [GRCh38]
Chr8:1817382 [GRCh37]
Chr8:8p23.3
likely benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1 copy number loss not provided [RCV001006043] Chr8:158048..9025197 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
NM_014629.4(ARHGEF10):c.1822-4C>G single nucleotide variant not provided [RCV000956551] Chr8:1905567 [GRCh38]
Chr8:1853733 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3763G>A (p.Asp1255Asn) single nucleotide variant not provided [RCV000956552] Chr8:1956991 [GRCh38]
Chr8:1905157 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.973G>A (p.Val325Met) single nucleotide variant not provided [RCV000889219] Chr8:1882647 [GRCh38]
Chr8:1830813 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.3519C>T (p.Thr1173=) single nucleotide variant not provided [RCV000889320] Chr8:1952826 [GRCh38]
Chr8:1900992 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.1206T>C (p.Gly402=) single nucleotide variant not provided [RCV000956927] Chr8:1893592 [GRCh38]
Chr8:1841758 [GRCh37]
Chr8:8p23.3
benign
NM_014629.4(ARHGEF10):c.2921+5G>C single nucleotide variant not provided [RCV000890512] Chr8:1928655 [GRCh38]
Chr8:1876821 [GRCh37]
Chr8:8p23.3
likely benign
GRCh37/hg19 8p23.3-23.2(chr8:1756636-2324956)x3 copy number gain not provided [RCV001006048] Chr8:1756636..2324956 [GRCh37]
Chr8:8p23.3-23.2
likely benign
NM_014629.4(ARHGEF10):c.343G>T (p.Glu115Ter) single nucleotide variant Peripheral axonal neuropathy [RCV001007468] Chr8:1860046 [GRCh38]
Chr8:1808212 [GRCh37]
Chr8:8p23.3
likely pathogenic
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001000176] Chr8:1928638 [GRCh38]
Chr8:1876804 [GRCh37]
Chr8:8p23.3
likely benign
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001000249] Chr8:1860104 [GRCh38]
Chr8:1808270 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.1812C>A (p.Tyr604Ter) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001002797] Chr8:1903442 [GRCh38]
Chr8:1851608 [GRCh37]
Chr8:8p23.3
uncertain significance
NM_014629.4(ARHGEF10):c.2460C>G (p.Asn820Lys) single nucleotide variant Slowed nerve conduction velocity, autosomal dominant [RCV001196158] Chr8:1923846 [GRCh38]
Chr8:1872012 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1 copy number loss Cerebellar ataxia [RCV001251057] Chr8:176814..11472913 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3(chr8:1100251-2190480)x1 copy number loss not provided [RCV001258398] Chr8:1100251..2190480 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158048-3476104)x1 copy number loss not provided [RCV001258403] Chr8:158048..3476104 [GRCh37]
Chr8:8p23.3-23.2
pathogenic
GRCh37/hg19 8p23.3(chr8:1565070-2190480)x1 copy number loss not provided [RCV001258399] Chr8:1565070..2190480 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3(chr8:158048-2081207)x1 copy number loss not provided [RCV001260043] Chr8:158048..2081207 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3(chr8:1668896-1842353)x1 copy number loss not provided [RCV001260044] Chr8:1668896..1842353 [GRCh37]
Chr8:8p23.3
uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1 copy number loss not provided [RCV001258401] Chr8:411691..6999114 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1565070-2254674)x3 copy number gain not provided [RCV001258402] Chr8:1565070..2254674 [GRCh37]
Chr8:8p23.3-23.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14103 AgrOrtholog
COSMIC ARHGEF10 COSMIC
Ensembl Genes ENSG00000104728 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000340297 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381568 UniProtKB/TrEMBL
  ENSP00000381571 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427768 UniProtKB/TrEMBL
  ENSP00000427909 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431012 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477521 UniProtKB/TrEMBL
  ENSP00000477988 UniProtKB/Swiss-Prot
  ENSP00000481974 UniProtKB/Swiss-Prot
  ENSP00000488343 UniProtKB/Swiss-Prot
  ENSP00000488344 UniProtKB/TrEMBL
  ENSP00000488463 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000349830 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398560 UniProtKB/TrEMBL
  ENST00000398564 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518288 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520359 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522435 UniProtKB/TrEMBL
  ENST00000610399 UniProtKB/Swiss-Prot
  ENST00000616718 UniProtKB/TrEMBL
  ENST00000619613 UniProtKB/Swiss-Prot
  ENST00000631758 UniProtKB/Swiss-Prot
  ENST00000633616 UniProtKB/Swiss-Prot
  ENST00000634038 UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104728 GTEx
  ENSG00000274726 GTEx
HGNC ID HGNC:14103 ENTREZGENE
Human Proteome Map ARHGEF10 Human Proteome Map
InterPro ARHGEF10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARHGEF10/ARHGEF17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9639 UniProtKB/Swiss-Prot
NCBI Gene 9639 ENTREZGENE
OMIM 608136 OMIM
  608236 OMIM
PANTHER PTHR12877 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12877:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24967 PharmGKB
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0U4L4_HUMAN UniProtKB/TrEMBL
  ARHGA_HUMAN UniProtKB/Swiss-Prot
  E9PB39_HUMAN UniProtKB/TrEMBL
  H0YAN8_HUMAN UniProtKB/TrEMBL
  O15013 ENTREZGENE
UniProt Secondary O14665 UniProtKB/Swiss-Prot
  Q2KHR8 UniProtKB/Swiss-Prot
  Q68D55 UniProtKB/Swiss-Prot
  Q8IWD9 UniProtKB/Swiss-Prot
  Q8IY77 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ARHGEF10  Rho guanine nucleotide exchange factor 10    Rho guanine nucleotide exchange factor (GEF) 10  Symbol and/or name change 5135510 APPROVED
2011-09-01 ARHGEF10  Rho guanine nucleotide exchange factor (GEF) 10  ARHGEF10  Rho guanine nucleotide exchange factor (GEF) 10  Symbol and/or name change 5135510 APPROVED