ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor 6) - Rat Genome Database

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Gene: ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor 6) Homo sapiens
Analyze
Symbol: ARHGEF6
Name: Rac/Cdc42 guanine nucleotide exchange factor 6
RGD ID: 1343816
HGNC Page HGNC
Description: Predicted to have guanyl-nucleotide exchange factor activity. Predicted to be involved in lamellipodium assembly. Predicted to localize to cell-cell junction and lamellipodium. Implicated in intellectual disability and non-syndromic X-linked intellectual disability 46.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-PIX; alphaPIX; Cool-2; COOL2; KIAA0006; mental retardation, X-linked 46; MRX46; PAK-interacting exchange factor alpha; PAK-interacting exchange factor, alpha; PIXA; Rac/Cdc42 guanine exchange factor (GEF) 6; Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6; rho guanine nucleotide exchange factor 6
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 EnsemblX136,665,547 - 136,780,932 (-)EnsemblGRCh38hg38GRCh38
GRCh38X136,665,547 - 136,780,945 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,747,709 - 135,863,091 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,575,375 - 135,691,169 (-)NCBINCBI36hg18NCBI36
Build 34X135,473,232 - 135,589,023NCBI
CeleraX136,111,384 - 136,227,182 (-)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX125,018,703 - 125,134,374 (-)NCBIHuRef
CHM1_1X135,659,375 - 135,775,269 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7584026   PMID:7584028   PMID:7584048   PMID:9582122   PMID:9659915   PMID:9783701   PMID:10428811   PMID:10523848   PMID:10559302   PMID:10896954   PMID:11337747   PMID:11564864  
PMID:11756498   PMID:11864573   PMID:11937491   PMID:12006652   PMID:12376548   PMID:12477932   PMID:12499396   PMID:12787561   PMID:12935897   PMID:15144186   PMID:15242552   PMID:15302935  
PMID:15306850   PMID:15324660   PMID:15489334   PMID:15611136   PMID:15649357   PMID:15688026   PMID:15761153   PMID:15772651   PMID:16094384   PMID:16320026   PMID:16374509   PMID:16897755  
PMID:16964243   PMID:16983070   PMID:17081983   PMID:17314030   PMID:17405911   PMID:17620599   PMID:18029348   PMID:19299420   PMID:19672789   PMID:19911011   PMID:19918261   PMID:19961560  
PMID:19969308   PMID:21295525   PMID:21900206   PMID:23455922   PMID:25241761   PMID:25281560   PMID:25450678   PMID:26177020   PMID:26186194   PMID:26507661   PMID:27173435   PMID:27182061  
PMID:27705803   PMID:28333213   PMID:28514442   PMID:30196744   PMID:31586073   PMID:31980649   PMID:32203420   PMID:32296183  


Genomics

Comparative Map Data
ARHGEF6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX136,665,547 - 136,780,932 (-)EnsemblGRCh38hg38GRCh38
GRCh38X136,665,547 - 136,780,945 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,747,709 - 135,863,091 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,575,375 - 135,691,169 (-)NCBINCBI36hg18NCBI36
Build 34X135,473,232 - 135,589,023NCBI
CeleraX136,111,384 - 136,227,182 (-)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX125,018,703 - 125,134,374 (-)NCBIHuRef
CHM1_1X135,659,375 - 135,775,269 (-)NCBICHM1_1
Arhgef6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X56,276,845 - 56,384,119 (-)NCBIGRCm39mm39
GRCm39 EnsemblX56,276,845 - 56,384,089 (-)Ensembl
GRCm38X57,231,485 - 57,338,758 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX57,231,485 - 57,338,729 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X54,484,662 - 54,591,906 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X53,578,271 - 53,685,513 (-)NCBImm8
CeleraX43,709,095 - 43,814,976 (-)NCBICelera
Cytogenetic MapXA6NCBI
Arhgef6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X135,145,447 - 135,264,636 (-)NCBI
Rnor_6.0 EnsemblX159,723,866 - 159,841,072 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X159,722,031 - 159,841,344 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X154,351,133 - 154,467,649 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X141,946,362 - 142,068,557 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X142,019,794 - 142,141,990 (-)NCBI
CeleraX143,180,944 - 143,297,823 (-)NCBICelera
Cytogenetic MapXq37NCBI
Arhgef6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554898,360,072 - 8,459,377 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554898,360,027 - 8,459,309 (+)NCBIChiLan1.0ChiLan1.0
ARHGEF6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X136,060,652 - 136,176,571 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX136,058,879 - 136,176,110 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X125,794,158 - 125,909,809 (-)NCBIMhudiblu_PPA_v0panPan3
ARHGEF6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X107,031,586 - 107,133,402 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX107,034,118 - 107,133,082 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX92,853,143 - 92,954,592 (-)NCBI
ROS_Cfam_1.0X109,011,566 - 109,112,628 (-)NCBI
UMICH_Zoey_3.1X106,152,309 - 106,253,330 (-)NCBI
UNSW_CanFamBas_1.0X108,343,657 - 108,445,068 (-)NCBI
UU_Cfam_GSD_1.0X107,985,467 - 108,087,145 (-)NCBI
Arhgef6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X105,016,252 - 105,126,029 (-)NCBI
SpeTri2.0NW_00493651310,488,525 - 10,598,366 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGEF6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX111,796,488 - 111,916,733 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X111,796,485 - 111,917,195 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X127,658,249 - 127,763,452 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGEF6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X111,672,701 - 111,793,597 (-)NCBI
ChlSab1.1 EnsemblX111,672,713 - 111,792,856 (-)Ensembl
Arhgef6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480810,320,388 - 10,464,081 (+)NCBI

Position Markers
RH25247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,747,835 - 135,747,997UniSTSGRCh37
Build 36X135,575,501 - 135,575,663RGDNCBI36
CeleraX136,111,510 - 136,111,672RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,018,829 - 125,018,991UniSTS
GeneMap99-GB4 RH MapX320.11UniSTS
G18212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,748,403 - 135,748,514UniSTSGRCh37
Build 36X135,576,069 - 135,576,180RGDNCBI36
CeleraX136,112,078 - 136,112,189RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,019,397 - 125,019,508UniSTS
G10668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,749,898 - 135,750,157UniSTSGRCh37
Build 36X135,577,564 - 135,577,823RGDNCBI36
CeleraX136,113,573 - 136,113,832RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,020,892 - 125,021,151UniSTS
SGC30410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,747,739 - 135,747,869UniSTSGRCh37
Build 36X135,575,405 - 135,575,535RGDNCBI36
CeleraX136,111,414 - 136,111,544RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,018,733 - 125,018,863UniSTS
GeneMap99-GB4 RH MapX319.69UniSTS
Whitehead-RH MapX302.9UniSTS
NCBI RH MapX716.1UniSTS
RH17397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,747,863 - 135,747,992UniSTSGRCh37
Build 36X135,575,529 - 135,575,658RGDNCBI36
CeleraX136,111,538 - 136,111,667RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,018,857 - 125,018,986UniSTS
GeneMap99-GB4 RH MapX320.11UniSTS
NCBI RH MapX685.3UniSTS
PMC155158P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,748,316 - 135,748,397UniSTSGRCh37
Build 36X135,575,982 - 135,576,063RGDNCBI36
CeleraX136,111,991 - 136,112,072RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,019,310 - 125,019,391UniSTS
ARHGEF6_7947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,747,535 - 135,748,113UniSTSGRCh37
Build 36X135,575,201 - 135,575,779RGDNCBI36
CeleraX136,111,210 - 136,111,788RGD
HuRefX125,018,529 - 125,019,107UniSTS
SHGC-31468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,749,954 - 135,750,153UniSTSGRCh37
Build 36X135,577,620 - 135,577,819RGDNCBI36
CeleraX136,113,629 - 136,113,828RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,020,948 - 125,021,147UniSTS
GeneMap99-G3 RH MapX4231.0UniSTS
RH77692  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26.3UniSTS
GeneMap99-GB4 RH MapX326.61UniSTS
NCBI RH MapX716.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6718
Count of miRNA genes:1070
Interacting mature miRNAs:1278
Transcripts:ENST00000250617, ENST00000370620, ENST00000370622, ENST00000535227
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1427 2544 627 47 1657 28 3009 1671 2269 181 651 913 20 1192 2153 1
Low 914 447 1085 564 275 421 1339 525 1461 231 752 620 152 1 12 635 2 2
Below cutoff 58 11 10 18 13 6 1 1 4 47 67 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF207831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL683813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE243825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D25304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000250617   ⟹   ENSP00000250617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,665,550 - 136,780,932 (-)Ensembl
RefSeq Acc Id: ENST00000370620   ⟹   ENSP00000359654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,665,547 - 136,767,343 (-)Ensembl
RefSeq Acc Id: ENST00000370622   ⟹   ENSP00000359656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,665,547 - 136,768,627 (-)Ensembl
RefSeq Acc Id: NM_001306177   ⟹   NP_001293106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,550 - 136,767,815 (-)NCBI
CHM1_1X135,659,375 - 135,761,329 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004840   ⟹   NP_004831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,550 - 136,780,932 (-)NCBI
GRCh37X135,747,708 - 135,863,503 (-)NCBI
Build 36X135,575,375 - 135,691,169 (-)NCBI Archive
HuRefX125,018,703 - 125,134,374 (-)ENTREZGENE
CHM1_1X135,659,375 - 135,775,269 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262499   ⟹   XP_005262556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,547 - 136,780,914 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531412   ⟹   XP_011529714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,550 - 136,780,914 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531413   ⟹   XP_011529715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,547 - 136,780,945 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531414   ⟹   XP_011529716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,547 - 136,780,914 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531415   ⟹   XP_011529717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,550 - 136,759,617 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531416   ⟹   XP_011529718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,674 - 136,767,779 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029975   ⟹   XP_016885464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,665,674 - 136,780,945 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004831   ⟸   NM_004840
- Peptide Label: isoform 1
- UniProtKB: Q15052 (UniProtKB/Swiss-Prot),   Q8N4Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262556   ⟸   XM_005262499
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011529716   ⟸   XM_011531414
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529715   ⟸   XM_011531413
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529714   ⟸   XM_011531412
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529718   ⟸   XM_011531416
- Peptide Label: isoform X7
- UniProtKB: B7Z3C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529717   ⟸   XM_011531415
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001293106   ⟸   NM_001306177
- Peptide Label: isoform 2
- UniProtKB: Q15052 (UniProtKB/Swiss-Prot),   B7Z3C7 (UniProtKB/TrEMBL),   Q8N4Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885464   ⟸   XM_017029975
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000359654   ⟸   ENST00000370620
RefSeq Acc Id: ENSP00000359656   ⟸   ENST00000370622
RefSeq Acc Id: ENSP00000250617   ⟸   ENST00000250617
Protein Domains
Calponin-homology (CH)   DH   PH   SH3

Promoters
RGD ID:6813777
Promoter ID:HG_ACW:85014
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ARHGEF6.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,669,631 - 135,670,131 (-)MPROMDB
RGD ID:6808717
Promoter ID:HG_KWN:68217
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370620
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,677,096 - 135,677,757 (-)MPROMDB
RGD ID:6808718
Promoter ID:HG_KWN:68218
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370622
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,678,221 - 135,678,721 (-)MPROMDB
RGD ID:6808719
Promoter ID:HG_KWN:68220
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370623
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,690,484 - 135,690,984 (-)MPROMDB
RGD ID:6808500
Promoter ID:HG_KWN:68221
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000058511
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,691,031 - 135,691,531 (-)MPROMDB
RGD ID:13628228
Promoter ID:EPDNEW_H29388
Type:initiation region
Name:ARHGEF6_1
Description:Rac/Cdc42 guanine nucleotide exchange factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,780,886 - 136,780,946EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
ARHGEF6, IVS1AS, T-C, -11 single nucleotide variant Mental retardation 46, X-linked [RCV000012185] ChrX:Xq26 pathogenic
NM_004840.3(ARHGEF6):c.1006G>A (p.Ala336Thr) single nucleotide variant See cases [RCV001197148] ChrX:136706948 [GRCh38]
ChrX:135789107 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
pathogenic
GRCh38/hg38 Xq26.3(chrX:136613664-137581772)x3 copy number gain See cases [RCV000052470] ChrX:136613664..137581772 [GRCh38]
ChrX:135695823..136663931 [GRCh37]
ChrX:135523489..136491597 [NCBI36]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.3(chrX:136005008-136665975)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|See cases [RCV000054250] ChrX:136005008..136665975 [GRCh38]
ChrX:135196639..135748134 [GRCh37]
ChrX:134914833..135575800 [NCBI36]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.455C>T (p.Thr152Ile) single nucleotide variant not provided [RCV000081185] ChrX:136745227 [GRCh38]
ChrX:135827386 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) single nucleotide variant History of neurodevelopmental disorder [RCV000721051]|Mental retardation 46, X-linked [RCV000609668]|not provided [RCV000871412]|not specified [RCV000116412] ChrX:136745320 [GRCh38]
ChrX:135827479 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_004840.3(ARHGEF6):c.1480-3T>C single nucleotide variant not provided [RCV000870872]|not specified [RCV000116413] ChrX:136681971 [GRCh38]
ChrX:135764130 [GRCh37]
ChrX:Xq26.3
benign
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=) single nucleotide variant History of neurodevelopmental disorder [RCV000720975]|not provided [RCV000870688]|not specified [RCV000116414] ChrX:136675035 [GRCh38]
ChrX:135757194 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_004840.3(ARHGEF6):c.553G>A (p.Asp185Asn) single nucleotide variant not specified [RCV000171446] ChrX:136743693 [GRCh38]
ChrX:135825852 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His) single nucleotide variant History of neurodevelopmental disorder [RCV000721056]|not provided [RCV000513689] ChrX:136708707 [GRCh38]
ChrX:135790866 [GRCh37]
ChrX:Xq26.3
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
NM_004840.3(ARHGEF6):c.334+7C>T single nucleotide variant not provided [RCV000514247] ChrX:136747501 [GRCh38]
ChrX:135829660 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000263759]|not provided [RCV000877163]|not specified [RCV000192797] ChrX:136732149 [GRCh38]
ChrX:135814308 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.1653C>T (p.Ala551=) single nucleotide variant not specified [RCV000192712] ChrX:136680782 [GRCh38]
ChrX:135762941 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.942C>T (p.His314=) single nucleotide variant not specified [RCV000193812] ChrX:136707012 [GRCh38]
ChrX:135789171 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000721042]|Mental retardation 46, X-linked [RCV000990954]|not provided [RCV000872853]|not specified [RCV000194124] ChrX:136779494 [GRCh38]
ChrX:135861653 [GRCh37]
ChrX:Xq26.3
benign|likely benign|uncertain significance
NM_004840.3(ARHGEF6):c.1190C>G (p.Thr397Ser) single nucleotide variant not specified [RCV000194793] ChrX:136687987 [GRCh38]
ChrX:135770146 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004840.3(ARHGEF6):c.262G>C (p.Asp88His) single nucleotide variant not provided [RCV000918393]|not specified [RCV000195123] ChrX:136747580 [GRCh38]
ChrX:135829739 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000235066] ChrX:135601430..136192229 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2 copy number gain Chromosome Xq26.3 duplication syndrome [RCV000210453] ChrX:135602028..136259908 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004840.3(ARHGEF6):c.1943A>G (p.Lys648Arg) single nucleotide variant Mental retardation 46, X-linked [RCV000990953]|not provided [RCV000520678] ChrX:136676626 [GRCh38]
ChrX:135758785 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004840.3(ARHGEF6):c.*38C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000301727] ChrX:136667991 [GRCh38]
ChrX:135750150 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*2062T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000275787] ChrX:136665967 [GRCh38]
ChrX:135748126 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*220T>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000294026] ChrX:136667809 [GRCh38]
ChrX:135749968 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*1141G>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000264480] ChrX:136666888 [GRCh38]
ChrX:135749047 [GRCh37]
ChrX:Xq26.3
benign
NM_004840.3(ARHGEF6):c.*2395C>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000355381] ChrX:136665634 [GRCh38]
ChrX:135747793 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.2(ARHGEF6):c.-222T>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000344658] ChrX:136781104 [GRCh38]
ChrX:135863263 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*1828A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000272656] ChrX:136666201 [GRCh38]
ChrX:135748360 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.2(ARHGEF6):c.-324T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000309140] ChrX:136781206 [GRCh38]
ChrX:135863365 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*131_*134del deletion Non-syndromic X-linked intellectual disability [RCV000310001] ChrX:136667895..136667898 [GRCh38]
ChrX:135750054..135750057 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*1952A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000362595] ChrX:136666077 [GRCh38]
ChrX:135748236 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*109_*110TC[6] microsatellite Non-syndromic X-linked intellectual disability [RCV000364644] ChrX:136667905..136667908 [GRCh38]
ChrX:135750064..135750067 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*1028A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000324281] ChrX:136667001 [GRCh38]
ChrX:135749160 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*176G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000314004] ChrX:136667853 [GRCh38]
ChrX:135750012 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*847C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000279715] ChrX:136667182 [GRCh38]
ChrX:135749341 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*2082T>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000370359] ChrX:136665947 [GRCh38]
ChrX:135748106 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*545C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000374440] ChrX:136667484 [GRCh38]
ChrX:135749643 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*1531C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000377735] ChrX:136666498 [GRCh38]
ChrX:135748657 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*938A>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000378830] ChrX:136667091 [GRCh38]
ChrX:135749250 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*2021A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000326150] ChrX:136666008 [GRCh38]
ChrX:135748167 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*1817dup duplication Non-syndromic X-linked intellectual disability [RCV000327777] ChrX:136666211..136666212 [GRCh38]
ChrX:135748370..135748371 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.2(ARHGEF6):c.-92_-91delTA deletion Non-syndromic X-linked intellectual disability [RCV000289652] ChrX:136780973..136780974 [GRCh38]
ChrX:135863132..135863133 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*2126G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000310988] ChrX:136665903 [GRCh38]
ChrX:135748062 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.468G>A (p.Thr156=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000387524] ChrX:136743778 [GRCh38]
ChrX:135825937 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*595C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000338449] ChrX:136667434 [GRCh38]
ChrX:135749593 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.2(ARHGEF6):c.-232G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000393228] ChrX:136781114 [GRCh38]
ChrX:135863273 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*158A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000345572] ChrX:136667871 [GRCh38]
ChrX:135750030 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*179C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000398571] ChrX:136667850 [GRCh38]
ChrX:135750009 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*149G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000399345] ChrX:136667880 [GRCh38]
ChrX:135750039 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.*2469C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000300577] ChrX:136665560 [GRCh38]
ChrX:135747719 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*2346C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000401677] ChrX:136665683 [GRCh38]
ChrX:135747842 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.166-11T>C single nucleotide variant not provided [RCV000514726] ChrX:136779508 [GRCh38]
ChrX:135861667 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*87T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000265270] ChrX:136667942 [GRCh38]
ChrX:135750101 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.1446T>C (p.Ser482=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000266307] ChrX:136682791 [GRCh38]
ChrX:135764950 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.*197_*199GTT[1] microsatellite Non-syndromic X-linked intellectual disability [RCV000348922] ChrX:136667827..136667829 [GRCh38]
ChrX:135749986..135749988 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.642C>T (p.Val214=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000318993] ChrX:136743604 [GRCh38]
ChrX:135825763 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.183A>G (p.Gln61=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000352870] ChrX:136779480 [GRCh38]
ChrX:135861639 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.1203T>A (p.His401Gln) single nucleotide variant not provided [RCV000596301] ChrX:136687974 [GRCh38]
ChrX:135770133 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.1549del (p.Glu517fs) deletion not provided [RCV001092166] ChrX:136681899 [GRCh38]
ChrX:135764058 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.2170G>A (p.Glu724Lys) single nucleotide variant not specified [RCV000414305] ChrX:136669502 [GRCh38]
ChrX:135751661 [GRCh37]
ChrX:Xq26.3
uncertain significance
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415468] ChrX:135622314..136191699 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415470] ChrX:135533330..136123779 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415471] ChrX:135596446..136254970 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415472] ChrX:135549274..136126345 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004840.3(ARHGEF6):c.34A>T (p.Ile12Leu) single nucleotide variant not provided [RCV000441407] ChrX:136780849 [GRCh38]
ChrX:135863008 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004840.3(ARHGEF6):c.2035+5G>C single nucleotide variant not provided [RCV000434522] ChrX:136675002 [GRCh38]
ChrX:135757161 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004840.3(ARHGEF6):c.1271G>T (p.Arg424Ile) single nucleotide variant not provided [RCV000482332] ChrX:136685798 [GRCh38]
ChrX:135767957 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.1685C>T (p.Ser562Leu) single nucleotide variant not specified [RCV000500952] ChrX:136680750 [GRCh38]
ChrX:135762909 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.1764G>A (p.Pro588=) single nucleotide variant not provided [RCV000903588]|not specified [RCV000500917] ChrX:136679601 [GRCh38]
ChrX:135761760 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004840.3(ARHGEF6):c.1932T>C (p.Tyr644=) single nucleotide variant not specified [RCV000504330] ChrX:136676637 [GRCh38]
ChrX:135758796 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.1026A>G (p.Val342=) single nucleotide variant not specified [RCV000499791] ChrX:136706928 [GRCh38]
ChrX:135789087 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.2207A>G (p.Lys736Arg) single nucleotide variant not provided [RCV000498189] ChrX:136668153 [GRCh38]
ChrX:135750312 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.1081G>T (p.Ala361Ser) single nucleotide variant not specified [RCV000502677] ChrX:136690714 [GRCh38]
ChrX:135772873 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.459+4A>T single nucleotide variant not specified [RCV000503205] ChrX:136745219 [GRCh38]
ChrX:135827378 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004840.3(ARHGEF6):c.2147A>C (p.Asp716Ala) single nucleotide variant not provided [RCV000493787] ChrX:136669525 [GRCh38]
ChrX:135751684 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
NM_004840.3(ARHGEF6):c.2240G>C (p.Arg747Thr) single nucleotide variant not provided [RCV000493364] ChrX:136668120 [GRCh38]
ChrX:135750279 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004840.3(ARHGEF6):c.1768A>C (p.Ser590Arg) single nucleotide variant not specified [RCV000607598] ChrX:136679597 [GRCh38]
ChrX:135761756 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.1946-3C>T single nucleotide variant not specified [RCV000601982] ChrX:136675099 [GRCh38]
ChrX:135757258 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_004840.3(ARHGEF6):c.1502C>T (p.Thr501Met) single nucleotide variant not provided [RCV000864638] ChrX:136681946 [GRCh38]
ChrX:135764105 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.1719C>T (p.Thr573=) single nucleotide variant not provided [RCV000950972] ChrX:136679646 [GRCh38]
ChrX:135761805 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_004840.3(ARHGEF6):c.2298C>T (p.Gly766=) single nucleotide variant not provided [RCV000996026] ChrX:136668062 [GRCh38]
ChrX:135750221 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.2067_2069del (p.Leu690del) deletion not provided [RCV000996027] ChrX:136672086..136672088 [GRCh38]
ChrX:135754245..135754247 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.1730G>A (p.Arg577Gln) single nucleotide variant not provided [RCV000996028] ChrX:136679635 [GRCh38]
ChrX:135761794 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_004840.3(ARHGEF6):c.2215C>A (p.Leu739Met) single nucleotide variant not provided [RCV000948327] ChrX:136668145 [GRCh38]
ChrX:135750304 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.2268T>C (p.Leu756=) single nucleotide variant not provided [RCV000972571] ChrX:136668092 [GRCh38]
ChrX:135750251 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.662-12dup duplication not provided [RCV000895770] ChrX:136732177..136732178 [GRCh38]
ChrX:135814336..135814337 [GRCh37]
ChrX:Xq26.3
likely benign
NM_004840.3(ARHGEF6):c.856C>T (p.Leu286=) single nucleotide variant not provided [RCV000871692] ChrX:136708742 [GRCh38]
ChrX:135790901 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_004840.3(ARHGEF6):c.2080G>A (p.Glu694Lys) single nucleotide variant Leukoencephalopathy with vanishing white matter [RCV001253004] ChrX:136672075 [GRCh38]
ChrX:135754234 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.1387T>C (p.Cys463Arg) single nucleotide variant Intellectual disability [RCV001251679] ChrX:136685682 [GRCh38]
ChrX:135767841 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004840.3(ARHGEF6):c.1769G>A (p.Ser590Asn) single nucleotide variant Mental retardation 46, X-linked [RCV001329325] ChrX:136679596 [GRCh38]
ChrX:135761755 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_004840.3(ARHGEF6):c.2024G>T (p.Gly675Val) single nucleotide variant Mental retardation 46, X-linked [RCV001329326] ChrX:136675018 [GRCh38]
ChrX:135757177 [GRCh37]
ChrX:Xq26.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:685 AgrOrtholog
COSMIC ARHGEF6 COSMIC
Ensembl Genes ENSG00000129675 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000250617 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359654 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359656 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000250617 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370620 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370622 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000129675 GTEx
HGNC ID HGNC:685 ENTREZGENE
Human Proteome Map ARHGEF6 Human Proteome Map
InterPro AlphaPIX_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GEF_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM22_calponin UniProtKB/Swiss-Prot
KEGG Report hsa:9459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9459 ENTREZGENE
OMIM 300267 OMIM
  300436 OMIM
Pfam betaPIX_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24976 PharmGKB
PRINTS SH3DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM22CALPONIN UniProtKB/Swiss-Prot
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00033 UniProtKB/Swiss-Prot
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0SSH0_HUMAN UniProtKB/TrEMBL
  ARHG6_HUMAN UniProtKB/Swiss-Prot
  B7Z3C7 ENTREZGENE, UniProtKB/TrEMBL
  Q15052 ENTREZGENE
  Q8N4Q3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A6NMW9 UniProtKB/Swiss-Prot
  A8K6S7 UniProtKB/Swiss-Prot
  B1AL37 UniProtKB/Swiss-Prot
  Q15396 UniProtKB/Swiss-Prot
  Q5JQ66 UniProtKB/Swiss-Prot
  Q7Z3W1 UniProtKB/Swiss-Prot
  Q86XH0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ARHGEF6  Rac/Cdc42 guanine nucleotide exchange factor 6    Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6  Symbol and/or name change 5135510 APPROVED
2011-08-16 ARHGEF6  Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6  ARHGEF6  Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6  Symbol and/or name change 5135510 APPROVED