ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9) - Rat Genome Database

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Gene: ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9) Homo sapiens
Analyze
Symbol: ARHGEF9
Name: Cdc42 guanine nucleotide exchange factor 9
RGD ID: 1348513
HGNC Page HGNC
Description: Predicted to have guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of postsynaptic specialization assembly. Localizes to cytosol. Implicated in developmental and epileptic encephalopathy 8.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Cdc42 guanine nucleotide exchange factor (GEF) 9; collybistin; DEE8; EIEE8; HPEM-2; hPEM-2 collybistin; KIAA0424; PEM-2; PEM-2 homolog; PEM2; rac/Cdc42 guanine nucleotide exchange factor 9; rho guanine nucleotide exchange factor 9
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 EnsemblX63,634,967 - 63,809,274 (-)EnsemblGRCh38hg38GRCh38
GRCh38X63,634,967 - 63,785,546 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X62,854,847 - 63,005,094 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X62,771,573 - 62,891,718 (-)NCBINCBI36hg18NCBI36
Build 34X62,637,868 - 62,758,014NCBI
CeleraX63,201,689 - 63,352,277 (-)NCBI
Cytogenetic MapXq11.1NCBI
HuRefX56,681,875 - 56,830,928 (-)NCBIHuRef
CHM1_1X62,747,364 - 62,897,940 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9455477   PMID:10559246   PMID:10607391   PMID:11727829   PMID:11756498   PMID:12376548   PMID:12477932   PMID:12787561   PMID:15215304   PMID:15342556   PMID:15489334   PMID:15772651  
PMID:16344560   PMID:18208356   PMID:18615734   PMID:19911011   PMID:20301437   PMID:20622020   PMID:20936779   PMID:21633362   PMID:21807943   PMID:22033413   PMID:22745667   PMID:22778260  
PMID:24297911   PMID:25678704   PMID:25898924   PMID:27107012   PMID:27238888   PMID:28611215   PMID:29130122   PMID:30021884   PMID:31283007   PMID:31527615   PMID:31942680   PMID:32203420  
PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
ARHGEF9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX63,634,967 - 63,809,274 (-)EnsemblGRCh38hg38GRCh38
GRCh38X63,634,967 - 63,785,546 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X62,854,847 - 63,005,094 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X62,771,573 - 62,891,718 (-)NCBINCBI36hg18NCBI36
Build 34X62,637,868 - 62,758,014NCBI
CeleraX63,201,689 - 63,352,277 (-)NCBI
Cytogenetic MapXq11.1NCBI
HuRefX56,681,875 - 56,830,928 (-)NCBIHuRef
CHM1_1X62,747,364 - 62,897,940 (-)NCBICHM1_1
Arhgef9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X94,092,536 - 94,240,801 (-)NCBIGRCm39mm39
GRCm39 EnsemblX94,092,541 - 94,240,462 (-)Ensembl
GRCm38X95,048,930 - 95,196,853 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX95,048,935 - 95,196,856 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X92,244,283 - 92,361,825 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X91,251,663 - 91,369,205 (-)NCBImm8
CeleraX82,072,839 - 82,190,049 (-)NCBICelera
Cytogenetic MapXC3NCBI
Arhgef9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X59,919,560 - 60,077,538 (-)NCBI
Rnor_6.0 EnsemblX64,248,278 - 64,428,592 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X64,249,576 - 64,428,444 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X65,150,714 - 65,329,116 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X82,594,347 - 82,754,179 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X82,667,647 - 82,827,471 (-)NCBI
CeleraX60,352,255 - 60,508,707 (-)NCBICelera
Cytogenetic MapXq22NCBI
Arhgef9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554754,017,632 - 4,214,563 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554754,020,922 - 4,214,464 (-)NCBIChiLan1.0ChiLan1.0
ARHGEF9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X62,862,115 - 63,010,088 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX62,862,115 - 63,010,512 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X52,779,238 - 52,946,480 (-)NCBIMhudiblu_PPA_v0panPan3
ARHGEF9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X49,101,034 - 49,312,797 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX49,101,985 - 49,313,136 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX39,935,940 - 40,147,896 (-)NCBI
ROS_Cfam_1.0X49,423,808 - 49,636,405 (-)NCBI
UMICH_Zoey_3.1X48,080,874 - 48,292,865 (-)NCBI
UNSW_CanFamBas_1.0X49,379,468 - 49,591,390 (-)NCBI
UU_Cfam_GSD_1.0X48,833,236 - 49,045,287 (-)NCBI
Arhgef9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X53,051,180 - 53,194,392 (+)NCBI
SpeTri2.0NW_0049366353,817,034 - 3,956,928 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGEF9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X50,159,912 - 50,578,020 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X56,579,846 - 56,756,238 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGEF9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X54,029,085 - 54,214,760 (-)NCBI
ChlSab1.1 EnsemblX54,029,084 - 54,153,172 (-)Ensembl
Vero_WHO_p1.0NW_0236660831,255,104 - 1,436,620 (-)NCBI
Arhgef9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248983,058,094 - 3,301,738 (+)NCBI

Position Markers
DXS7000E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X62,854,950 - 62,855,048UniSTSGRCh37
Build 36X62,771,675 - 62,771,773RGDNCBI36
CeleraX63,201,791 - 63,201,889RGD
Cytogenetic MapXq11.1UniSTS
HuRefX56,681,977 - 56,682,075UniSTS
DXS7485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X62,854,873 - 62,855,049UniSTSGRCh37
Build 36X62,771,598 - 62,771,774RGDNCBI36
CeleraX63,201,714 - 63,201,890RGD
Cytogenetic MapXq11.1UniSTS
HuRefX56,681,900 - 56,682,076UniSTS
Whitehead-RH MapX145.4UniSTS
Whitehead-YAC Contig MapX UniSTS
B324ZC5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X62,854,739 - 62,854,903UniSTSGRCh37
Build 36X62,771,464 - 62,771,628RGDNCBI36
CeleraX63,201,580 - 63,201,744RGD
Cytogenetic MapXq11.1UniSTS
HuRefX56,681,766 - 56,681,930UniSTS
Whitehead-RH MapX129.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6404
Count of miRNA genes:1265
Interacting mature miRNAs:1615
Transcripts:ENST00000253401, ENST00000374870, ENST00000374872, ENST00000374878, ENST00000433323, ENST00000437457, ENST00000466925, ENST00000495564, ENST00000498761
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 191 1436 293 10 342 11 993 63 2375 172 314 207 1 23 734 1
Low 2244 1317 1420 600 1395 441 3326 2072 1354 245 1132 1396 170 1 1181 2019 4 1
Below cutoff 3 236 10 10 214 10 36 61 5 2 9 5 1 35 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP270451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB227223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253401   ⟹   ENSP00000253401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,634,967 - 63,755,113 (-)Ensembl
RefSeq Acc Id: ENST00000374870   ⟹   ENSP00000364004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,634,971 - 63,755,089 (-)Ensembl
RefSeq Acc Id: ENST00000374872   ⟹   ENSP00000364006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,982 - 63,755,127 (-)Ensembl
RefSeq Acc Id: ENST00000374878   ⟹   ENSP00000364012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,634,967 - 63,785,546 (-)Ensembl
RefSeq Acc Id: ENST00000437457   ⟹   ENSP00000399994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,636,331 - 63,785,524 (-)Ensembl
RefSeq Acc Id: ENST00000466925   ⟹   ENSP00000485086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,982 - 63,674,138 (-)Ensembl
RefSeq Acc Id: ENST00000495564   ⟹   ENSP00000485633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,746 - 63,755,143 (-)Ensembl
RefSeq Acc Id: ENST00000498761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,982 - 63,644,266 (-)Ensembl
RefSeq Acc Id: ENST00000623417   ⟹   ENSP00000485083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,678,496 - 63,809,274 (-)Ensembl
RefSeq Acc Id: ENST00000623517   ⟹   ENSP00000485369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,690 - 63,785,558 (-)Ensembl
RefSeq Acc Id: ENST00000623566   ⟹   ENSP00000485559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,697,221 - 63,755,335 (-)Ensembl
RefSeq Acc Id: ENST00000623951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,754,284 - 63,755,070 (-)Ensembl
RefSeq Acc Id: ENST00000624210   ⟹   ENSP00000485144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,840 - 63,755,078 (-)Ensembl
RefSeq Acc Id: ENST00000624355   ⟹   ENSP00000485327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,697,276 - 63,785,215 (-)Ensembl
RefSeq Acc Id: ENST00000624387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,706,263 - 63,724,975 (-)Ensembl
RefSeq Acc Id: ENST00000624538   ⟹   ENSP00000485282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,003 - 63,755,032 (-)Ensembl
RefSeq Acc Id: ENST00000624783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,982 - 63,657,990 (-)Ensembl
RefSeq Acc Id: ENST00000624843   ⟹   ENSP00000485626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,985 - 63,755,063 (-)Ensembl
RefSeq Acc Id: ENST00000625116   ⟹   ENSP00000485160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,678,504 - 63,785,215 (-)Ensembl
RefSeq Acc Id: ENST00000635729   ⟹   ENSP00000490940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,868 - 63,755,216 (-)Ensembl
RefSeq Acc Id: ENST00000635967   ⟹   ENSP00000490691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,982 - 63,755,098 (-)Ensembl
RefSeq Acc Id: ENST00000636048   ⟹   ENSP00000490063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,003 - 63,754,747 (-)Ensembl
RefSeq Acc Id: ENST00000636102   ⟹   ENSP00000490693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,638,027 - 63,754,740 (-)Ensembl
RefSeq Acc Id: ENST00000636145   ⟹   ENSP00000490005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,639,556 - 63,644,048 (-)Ensembl
RefSeq Acc Id: ENST00000636276   ⟹   ENSP00000490408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,639,446 - 63,755,056 (-)Ensembl
RefSeq Acc Id: ENST00000636392   ⟹   ENSP00000489853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,638,027 - 63,754,684 (-)Ensembl
RefSeq Acc Id: ENST00000636539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,707,411 - 63,724,607 (-)Ensembl
RefSeq Acc Id: ENST00000636926   ⟹   ENSP00000490667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,639,415 - 63,755,127 (-)Ensembl
RefSeq Acc Id: ENST00000637040   ⟹   ENSP00000490459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,003 - 63,754,711 (-)Ensembl
RefSeq Acc Id: ENST00000637178   ⟹   ENSP00000489862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,906 - 63,754,731 (-)Ensembl
RefSeq Acc Id: ENST00000637391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,709,136 - 63,724,592 (-)Ensembl
RefSeq Acc Id: ENST00000637417   ⟹   ENSP00000490269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,161 - 63,755,123 (-)Ensembl
RefSeq Acc Id: ENST00000637520   ⟹   ENSP00000490123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,015 - 63,755,124 (-)Ensembl
RefSeq Acc Id: ENST00000637557   ⟹   ENSP00000490679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,299 - 63,754,740 (-)Ensembl
RefSeq Acc Id: ENST00000637723   ⟹   ENSP00000489637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,637,885 - 63,755,113 (-)Ensembl
RefSeq Acc Id: ENST00000637855   ⟹   ENSP00000489670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,655,616 - 63,706,360 (-)Ensembl
RefSeq Acc Id: ENST00000638021   ⟹   ENSP00000490410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,003 - 63,754,755 (-)Ensembl
RefSeq Acc Id: ENST00000639092   ⟹   ENSP00000492318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,071 - 63,754,340 (-)Ensembl
RefSeq Acc Id: ENST00000671741   ⟹   ENSP00000500715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,634,967 - 63,785,214 (-)Ensembl
RefSeq Acc Id: ENST00000671907   ⟹   ENSP00000500829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,634,984 - 63,755,078 (-)Ensembl
RefSeq Acc Id: ENST00000672194   ⟹   ENSP00000499905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,015 - 63,755,113 (-)Ensembl
RefSeq Acc Id: ENST00000672467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,639,524 - 63,785,214 (-)Ensembl
RefSeq Acc Id: ENST00000672513   ⟹   ENSP00000500825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX63,635,003 - 63,754,765 (-)Ensembl
RefSeq Acc Id: NM_001173479   ⟹   NP_001166950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,785,214 (-)NCBI
GRCh37X62,854,847 - 63,005,426 (-)NCBI
CeleraX63,201,689 - 63,352,277 (-)RGD
HuRefX56,681,875 - 56,830,928 (-)RGD
CHM1_1X62,747,364 - 62,897,940 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001173480   ⟹   NP_001166951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
GRCh37X62,854,847 - 63,005,426 (-)NCBI
CeleraX63,201,689 - 63,352,277 (-)RGD
HuRefX56,681,875 - 56,830,928 (-)RGD
CHM1_1X62,747,364 - 62,867,549 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330495   ⟹   NP_001317424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,785,214 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353921   ⟹   NP_001340850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,785,214 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353922   ⟹   NP_001340851
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,785,214 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353923   ⟹   NP_001340852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,216 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353924   ⟹   NP_001340853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353926   ⟹   NP_001340855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353927   ⟹   NP_001340856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353928   ⟹   NP_001340857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369030   ⟹   NP_001355959
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369031   ⟹   NP_001355960
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369032   ⟹   NP_001355961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369033   ⟹   NP_001355962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369034   ⟹   NP_001355963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369035   ⟹   NP_001355964
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369036   ⟹   NP_001355965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369037   ⟹   NP_001355966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369038   ⟹   NP_001355967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369039   ⟹   NP_001355968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369040   ⟹   NP_001355969
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369041   ⟹   NP_001355970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369042   ⟹   NP_001355971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369043   ⟹   NP_001355972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,785,214 (-)NCBI
RefSeq Acc Id: NM_001369044   ⟹   NP_001355973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_001369045   ⟹   NP_001355974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
RefSeq Acc Id: NM_015185   ⟹   NP_056000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,123 (-)NCBI
GRCh37X62,854,847 - 63,005,426 (-)NCBI
Build 36X62,771,573 - 62,891,718 (-)NCBI Archive
CeleraX63,201,689 - 63,352,277 (-)RGD
HuRefX56,681,875 - 56,830,928 (-)RGD
CHM1_1X62,747,364 - 62,867,549 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029364   ⟹   XP_016884853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,143 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029374   ⟹   XP_016884863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,150 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029377   ⟹   XP_016884866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,754,564 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029378   ⟹   XP_016884867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,655,561 - 63,785,546 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029380   ⟹   XP_016884869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,755,150 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452356   ⟹   XP_024308124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,754,888 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452357   ⟹   XP_024308125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,634,967 - 63,731,540 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001166950 (Get FASTA)   NCBI Sequence Viewer  
  NP_001166951 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317424 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340850 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340851 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340852 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340853 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340855 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340856 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340857 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355959 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355960 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355961 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355962 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355963 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355964 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355965 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355966 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355967 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355968 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355969 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355970 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355971 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355972 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355973 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355974 (Get FASTA)   NCBI Sequence Viewer  
  NP_056000 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884853 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884863 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884866 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884867 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884869 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308124 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308125 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI17407 (Get FASTA)   NCBI Sequence Viewer  
  BAA24854 (Get FASTA)   NCBI Sequence Viewer  
  BAF82682 (Get FASTA)   NCBI Sequence Viewer  
  BAG57869 (Get FASTA)   NCBI Sequence Viewer  
  BAG58088 (Get FASTA)   NCBI Sequence Viewer  
  BAG58186 (Get FASTA)   NCBI Sequence Viewer  
  EAX05416 (Get FASTA)   NCBI Sequence Viewer  
  EAX05417 (Get FASTA)   NCBI Sequence Viewer  
  EAX05418 (Get FASTA)   NCBI Sequence Viewer  
  O43307 (Get FASTA)   NCBI Sequence Viewer  
  SPT35719 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_056000   ⟸   NM_015185
- Peptide Label: isoform 1
- UniProtKB: O43307 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166950   ⟸   NM_001173479
- Peptide Label: isoform 2
- UniProtKB: O43307 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166951   ⟸   NM_001173480
- Peptide Label: isoform 3
- UniProtKB: O43307 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884853   ⟸   XM_017029364
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884863   ⟸   XM_017029374
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016884869   ⟸   XM_017029380
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016884866   ⟸   XM_017029377
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016884867   ⟸   XM_017029378
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: NP_001340851   ⟸   NM_001353922
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001340850   ⟸   NM_001353921
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001317424   ⟸   NM_001330495
- Peptide Label: isoform 4
- UniProtKB: B1AMR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340852   ⟸   NM_001353923
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001340856   ⟸   NM_001353927
- Peptide Label: isoform 10
- Sequence:
RefSeq Acc Id: NP_001340855   ⟸   NM_001353926
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: NP_001340853   ⟸   NM_001353924
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001340857   ⟸   NM_001353928
- Peptide Label: isoform 11
- Sequence:
RefSeq Acc Id: XP_024308124   ⟸   XM_024452356
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024308125   ⟸   XM_024452357
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001355972   ⟸   NM_001369043
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001355967   ⟸   NM_001369038
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001355966   ⟸   NM_001369037
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001355970   ⟸   NM_001369041
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001355973   ⟸   NM_001369044
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001355964   ⟸   NM_001369035
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001355963   ⟸   NM_001369034
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001355969   ⟸   NM_001369040
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001355960   ⟸   NM_001369031
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001355968   ⟸   NM_001369039
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001355959   ⟸   NM_001369030
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001355974   ⟸   NM_001369045
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001355962   ⟸   NM_001369033
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001355965   ⟸   NM_001369036
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001355961   ⟸   NM_001369032
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001355971   ⟸   NM_001369042
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000253401   ⟸   ENST00000253401
RefSeq Acc Id: ENSP00000490940   ⟸   ENST00000635729
RefSeq Acc Id: ENSP00000490691   ⟸   ENST00000635967
RefSeq Acc Id: ENSP00000490408   ⟸   ENST00000636276
RefSeq Acc Id: ENSP00000490693   ⟸   ENST00000636102
RefSeq Acc Id: ENSP00000490005   ⟸   ENST00000636145
RefSeq Acc Id: ENSP00000490063   ⟸   ENST00000636048
RefSeq Acc Id: ENSP00000489853   ⟸   ENST00000636392
RefSeq Acc Id: ENSP00000490667   ⟸   ENST00000636926
RefSeq Acc Id: ENSP00000490123   ⟸   ENST00000637520
RefSeq Acc Id: ENSP00000490679   ⟸   ENST00000637557
RefSeq Acc Id: ENSP00000490269   ⟸   ENST00000637417
RefSeq Acc Id: ENSP00000489862   ⟸   ENST00000637178
RefSeq Acc Id: ENSP00000489670   ⟸   ENST00000637855
RefSeq Acc Id: ENSP00000489637   ⟸   ENST00000637723
RefSeq Acc Id: ENSP00000490459   ⟸   ENST00000637040
RefSeq Acc Id: ENSP00000485559   ⟸   ENST00000623566
RefSeq Acc Id: ENSP00000485369   ⟸   ENST00000623517
RefSeq Acc Id: ENSP00000485083   ⟸   ENST00000623417
RefSeq Acc Id: ENSP00000485086   ⟸   ENST00000466925
RefSeq Acc Id: ENSP00000485144   ⟸   ENST00000624210
RefSeq Acc Id: ENSP00000485282   ⟸   ENST00000624538
RefSeq Acc Id: ENSP00000364004   ⟸   ENST00000374870
RefSeq Acc Id: ENSP00000364006   ⟸   ENST00000374872
RefSeq Acc Id: ENSP00000364012   ⟸   ENST00000374878
RefSeq Acc Id: ENSP00000485327   ⟸   ENST00000624355
RefSeq Acc Id: ENSP00000490410   ⟸   ENST00000638021
RefSeq Acc Id: ENSP00000485626   ⟸   ENST00000624843
RefSeq Acc Id: ENSP00000492318   ⟸   ENST00000639092
RefSeq Acc Id: ENSP00000485160   ⟸   ENST00000625116
RefSeq Acc Id: ENSP00000485633   ⟸   ENST00000495564
RefSeq Acc Id: ENSP00000500829   ⟸   ENST00000671907
RefSeq Acc Id: ENSP00000500715   ⟸   ENST00000671741
RefSeq Acc Id: ENSP00000499905   ⟸   ENST00000672194
RefSeq Acc Id: ENSP00000399994   ⟸   ENST00000437457
RefSeq Acc Id: ENSP00000500825   ⟸   ENST00000672513
Protein Domains
DH   PH   SH3

Promoters
RGD ID:6808524
Promoter ID:HG_KWN:67036
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001173480,   OTTHUMT00000056937,   UC004DVK.1,   UC004DVM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X62,890,951 - 62,892,512 (-)MPROMDB
RGD ID:13627288
Promoter ID:EPDNEW_H28923
Type:initiation region
Name:ARHGEF9_1
Description:Cdc42 guanine nucleotide exchange factor 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28924  EPDNEW_H28925  EPDNEW_H28926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,755,123 - 63,755,183EPDNEW
RGD ID:13627290
Promoter ID:EPDNEW_H28924
Type:initiation region
Name:ARHGEF9_2
Description:Cdc42 guanine nucleotide exchange factor 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28923  EPDNEW_H28925  EPDNEW_H28926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,785,170 - 63,785,230EPDNEW
RGD ID:13627296
Promoter ID:EPDNEW_H28925
Type:initiation region
Name:ARHGEF9_3
Description:Cdc42 guanine nucleotide exchange factor 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28923  EPDNEW_H28924  EPDNEW_H28926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X63,785,517 - 63,785,577EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000543215] ChrX:63638180 [GRCh38]
ChrX:62858060 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001080627]|History of neurodevelopmental disorder [RCV000719585]|not provided [RCV000827555] ChrX:63638112 [GRCh38]
ChrX:62857992 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000022860] ChrX:63785142 [GRCh38]
ChrX:63005022 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000011796] ChrX:63724557 [GRCh38]
ChrX:62944437 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_015185.2(ARHGEF9):c.382-1727A>T single nucleotide variant Lung cancer [RCV000102699] ChrX:63699031 [GRCh38]
ChrX:62918911 [GRCh37]
ChrX:Xq11.1
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 Xq11.1-11.2(chrX:63514988-64270642)x3 copy number gain See cases [RCV000050563] ChrX:63514988..64270642 [GRCh38]
ChrX:63086231..63490522 [GRCh37]
ChrX:62651593..63407247 [NCBI36]
ChrX:Xq11.1-11.2
uncertain significance
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 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 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 Xp11.21-q11.2(chrX:55895084-65038751)x2 copy number gain See cases [RCV000052414] ChrX:55895084..65038751 [GRCh38]
ChrX:55921517..64258631 [GRCh37]
ChrX:55938242..64175356 [NCBI36]
ChrX:Xp11.21-q11.2
pathogenic
GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-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
NM_015185.2(ARHGEF9):c.244G>A (p.Gly82Arg) single nucleotide variant Malignant melanoma [RCV000073232] ChrX:63706395 [GRCh38]
ChrX:62926275 [GRCh37]
ChrX:62843000 [NCBI36]
ChrX:Xq11.1
not provided
NM_015185.3(ARHGEF9):c.1045C>A (p.Leu349Ile) single nucleotide variant not provided [RCV000087223] ChrX:63665897 [GRCh38]
ChrX:62885777 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001079282]|not specified [RCV000421684] ChrX:63724693 [GRCh38]
ChrX:62944573 [GRCh37]
ChrX:Xq11.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001086909]|History of neurodevelopmental disorder [RCV000720873]|not provided [RCV000116416]|not specified [RCV000594671] ChrX:63678480 [GRCh38]
ChrX:62898360 [GRCh37]
ChrX:Xq11.1
benign|likely benign|conflicting interpretations of pathogenicity|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
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001004738] ChrX:63644019 [GRCh38]
ChrX:62863899 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.1391-4C>G single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001349161] ChrX:63638213 [GRCh38]
ChrX:62858093 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-11.2(chrX:63253804-63911433)x3 copy number gain See cases [RCV000137464] ChrX:63253804..63911433 [GRCh38]
ChrX:62473681..63131313 [GRCh37]
ChrX:62390406..63048038 [NCBI36]
ChrX:Xq11.1-11.2
uncertain significance
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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2 copy number gain See cases [RCV000137371] ChrX:56127875..63867853 [GRCh38]
ChrX:56154308..63087733 [GRCh37]
ChrX:56171033..63004458 [NCBI36]
ChrX:Xp11.21-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xq11.1-11.2(chrX:63500531-64177350)x3 copy number gain See cases [RCV000143777] ChrX:63500531..64177350 [GRCh38]
ChrX:62720411..63397230 [GRCh37]
ChrX:62637136..63313955 [NCBI36]
ChrX:Xq11.1-11.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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_001353921.2(ARHGEF9):c.266G>T (p.Gly89Val) single nucleotide variant not specified [RCV000195209] ChrX:63706394 [GRCh38]
ChrX:62926274 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser) single nucleotide variant not specified [RCV000193241] ChrX:63678374 [GRCh38]
ChrX:62898254 [GRCh37]
ChrX:Xq11.1
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
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000656417] ChrX:63674063 [GRCh38]
ChrX:62893943 [GRCh37]
ChrX:Xq11.1
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
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001081782]|History of neurodevelopmental disorder [RCV000718091]|not provided [RCV000726610]|not specified [RCV000596169] ChrX:63706309 [GRCh38]
ChrX:62926189 [GRCh37]
ChrX:Xq11.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000558962] ChrX:63655590 [GRCh38]
ChrX:62875470 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001040965]|Inborn genetic diseases [RCV000210722] ChrX:63665930 [GRCh38]
ChrX:62885810 [GRCh37]
ChrX:Xq11.1
pathogenic|likely pathogenic|uncertain significance
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 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=) single nucleotide variant not specified [RCV000600474] ChrX:63706426 [GRCh38]
ChrX:62926306 [GRCh37]
ChrX:Xq11.1
likely benign
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-11.2(chrX:62862203-63490522)x3 copy number gain See cases [RCV000240536] ChrX:62862203..63490522 [GRCh37]
ChrX:Xq11.1-11.2
uncertain significance
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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001088789]|History of neurodevelopmental disorder [RCV000715592]|not provided [RCV000276846] ChrX:63655702 [GRCh38]
ChrX:62875582 [GRCh37]
ChrX:Xq11.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353921.2(ARHGEF9):c.1238T>C (p.Phe413Ser) single nucleotide variant not provided [RCV000489622] ChrX:63655577 [GRCh38]
ChrX:62875457 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.820T>C (p.Tyr274His) single nucleotide variant not provided [RCV000489653] ChrX:63674163 [GRCh38]
ChrX:62894043 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000585853] ChrX:63697145 [GRCh38]
ChrX:62917025 [GRCh37]
ChrX:Xq11.1
likely pathogenic
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001004681]|not provided [RCV000596832] ChrX:63706329 [GRCh38]
ChrX:62926209 [GRCh37]
ChrX:Xq11.1
likely pathogenic|uncertain significance
NM_001353921.2(ARHGEF9):c.1112G>T (p.Gly371Val) single nucleotide variant not provided [RCV000392236] ChrX:63655703 [GRCh38]
ChrX:62875583 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001211094]|not provided [RCV000328422] ChrX:63706379 [GRCh38]
ChrX:62926259 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000640879]|Inborn genetic diseases [RCV001265790] ChrX:63638120 [GRCh38]
ChrX:62858000 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001205062]|not provided [RCV000522842] ChrX:63638060 [GRCh38]
ChrX:62857940 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.99G>A (p.Glu33=) single nucleotide variant not provided [RCV000592901] ChrX:63724643 [GRCh38]
ChrX:62944523 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000640877] ChrX:63638064 [GRCh38]
ChrX:62857944 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1175A>G (p.Asn392Ser) single nucleotide variant not provided [RCV000523793] ChrX:63655640 [GRCh38]
ChrX:62875520 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_015185.3(ARHGEF9):c.1056G>A (p.Lys352=) single nucleotide variant not provided [RCV000656310] ChrX:63665886 [GRCh38]
ChrX:62885766 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-11.2(chrX:62970571-63052696)x1 copy number loss See cases [RCV000447371] ChrX:62970571..63052696 [GRCh37]
ChrX:Xq11.1-11.2
uncertain significance
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:168546-155196888)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 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000685616]|not provided [RCV000430990] ChrX:63665903 [GRCh38]
ChrX:62885783 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.816-9T>C single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001328864]|not specified [RCV000445002] ChrX:63674176 [GRCh38]
ChrX:62894056 [GRCh37]
ChrX:Xq11.1
likely benign|uncertain significance
NM_001353921.2(ARHGEF9):c.583-18T>G single nucleotide variant not specified [RCV000420918] ChrX:63678590 [GRCh38]
ChrX:62898470 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000554220]|History of neurodevelopmental disorder [RCV000720639]|not specified [RCV000427384] ChrX:63674044 [GRCh38]
ChrX:62893924 [GRCh37]
ChrX:Xq11.1
benign|likely benign
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000550451]|History of neurodevelopmental disorder [RCV000719138]|not specified [RCV000431314] ChrX:63697125 [GRCh38]
ChrX:62917005 [GRCh37]
ChrX:Xq11.1
likely benign|uncertain significance
NM_001353921.2(ARHGEF9):c.*7C>G single nucleotide variant not specified [RCV000437997] ChrX:63638021 [GRCh38]
ChrX:62857901 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1018G>A (p.Gly340Ser) single nucleotide variant not provided [RCV000424142] ChrX:63665945 [GRCh38]
ChrX:62885825 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001205908]|Inborn genetic diseases [RCV000624397]|not specified [RCV000434928] ChrX:63638129 [GRCh38]
ChrX:62858009 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.389A>G (p.Lys130Arg) single nucleotide variant not provided [RCV000442109] ChrX:63706271 [GRCh38]
ChrX:62926151 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.31-29639A>T single nucleotide variant not specified [RCV000421222] ChrX:63754350 [GRCh38]
ChrX:62974230 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys) single nucleotide variant not provided [RCV000428238] ChrX:63666014 [GRCh38]
ChrX:62885894 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000869068]|not specified [RCV000419119] ChrX:63674098 [GRCh38]
ChrX:62893978 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.948C>A (p.Gly316=) single nucleotide variant not specified [RCV000439582] ChrX:63666015 [GRCh38]
ChrX:62885895 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.934C>A (p.Leu312Ile) single nucleotide variant not provided [RCV000439755] ChrX:63674049 [GRCh38]
ChrX:62893929 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1078-18C>T single nucleotide variant not specified [RCV000429452] ChrX:63655755 [GRCh38]
ChrX:62875635 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.561A>T (p.Ile187=) single nucleotide variant not specified [RCV000439912] ChrX:63697146 [GRCh38]
ChrX:62917026 [GRCh37]
ChrX:Xq11.1
likely benign
NM_015185.3(ARHGEF9):c.1127T>C (p.Ile376Thr) single nucleotide variant not provided [RCV000430844] ChrX:63655667 [GRCh38]
ChrX:62875547 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1506C>T (p.Thr502=) single nucleotide variant not specified [RCV000419982] ChrX:63638094 [GRCh38]
ChrX:62857974 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=) single nucleotide variant not specified [RCV000430102] ChrX:63697143 [GRCh38]
ChrX:62917023 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000869156]|not specified [RCV000426584] ChrX:63697128 [GRCh38]
ChrX:62917008 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=) single nucleotide variant not specified [RCV000430247] ChrX:63678378 [GRCh38]
ChrX:62898258 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=) single nucleotide variant not provided [RCV000867536]|not specified [RCV000437001] ChrX:63678408 [GRCh38]
ChrX:62898288 [GRCh37]
ChrX:Xq11.1
benign|likely benign
NM_001353921.2(ARHGEF9):c.1218T>A (p.Thr406=) single nucleotide variant not specified [RCV000440712] ChrX:63655597 [GRCh38]
ChrX:62875477 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.289T>C (p.Cys97Arg) single nucleotide variant not specified [RCV000420313] ChrX:63706371 [GRCh38]
ChrX:62926251 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.946-16C>T single nucleotide variant not specified [RCV000430698] ChrX:63666033 [GRCh38]
ChrX:62885913 [GRCh37]
ChrX:Xq11.1
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys) single nucleotide variant not provided [RCV000943470]|not specified [RCV000503468] ChrX:63724576 [GRCh38]
ChrX:62944456 [GRCh37]
ChrX:Xq11.1
likely benign|uncertain significance
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_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000496205]|not provided [RCV000627195] ChrX:63674097 [GRCh38]
ChrX:62893977 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000525240]|not specified [RCV000501708] ChrX:63706288 [GRCh38]
ChrX:62926168 [GRCh37]
ChrX:Xq11.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353921.2(ARHGEF9):c.901A>T (p.Ile301Phe) single nucleotide variant not specified [RCV000499378] ChrX:63674082 [GRCh38]
ChrX:62893962 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001353921.2(ARHGEF9):c.744T>C (p.Thr248=) single nucleotide variant not specified [RCV000499915] ChrX:63678411 [GRCh38]
ChrX:62898291 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000723327]|not provided [RCV000498530] ChrX:63706328 [GRCh38]
ChrX:62926208 [GRCh37]
ChrX:Xq11.1
pathogenic|likely pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001353921.2(ARHGEF9):c.31-29642del deletion not specified [RCV000601780] ChrX:63754353 [GRCh38]
ChrX:62974233 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000535284] ChrX:63655522 [GRCh38]
ChrX:62875402 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000536493] ChrX:63706396 [GRCh38]
ChrX:62926276 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000537955] ChrX:63697143 [GRCh38]
ChrX:62917023 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000934629]|not specified [RCV000606371] ChrX:63643984 [GRCh38]
ChrX:62863864 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.815+8A>T single nucleotide variant not provided [RCV000539177] ChrX:63678332 [GRCh38]
ChrX:62898212 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.726C>A (p.Ile242=) single nucleotide variant not specified [RCV000600619] ChrX:63678429 [GRCh38]
ChrX:62898309 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000640878] ChrX:63697129 [GRCh38]
ChrX:62917009 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.583-11dup duplication Early infantile epileptic encephalopathy 8 [RCV000640881]|not provided [RCV000840201] ChrX:63678579..63678580 [GRCh38]
ChrX:62898459..62898460 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.31-29583C>A single nucleotide variant not specified [RCV000613520] ChrX:63754294 [GRCh38]
ChrX:62974174 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.815+8A>G single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000526726] ChrX:63678332 [GRCh38]
ChrX:62898212 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=) single nucleotide variant not specified [RCV000606492] ChrX:63785122 [GRCh38]
ChrX:63005002 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.946-4C>A single nucleotide variant not specified [RCV000611579] ChrX:63666021 [GRCh38]
ChrX:62885901 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.816-12_816-11del deletion not specified [RCV000607449] ChrX:63674178..63674179 [GRCh38]
ChrX:62894058..62894059 [GRCh37]
ChrX:Xq11.1
likely benign
GRCh37/hg19 Xq11.1(chrX:62754362-62931498)x0 copy number loss See cases [RCV000512232] ChrX:62754362..62931498 [GRCh37]
ChrX:Xq11.1
likely 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 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000687487] ChrX:63638198 [GRCh38]
ChrX:62858078 [GRCh37]
ChrX:Xq11.1
benign|uncertain significance
NM_001353921.2(ARHGEF9):c.582+1G>A single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000702363] ChrX:63697124 [GRCh38]
ChrX:62917004 [GRCh37]
ChrX:Xq11.1
pathogenic|likely pathogenic
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000686743] ChrX:63697265 [GRCh38]
ChrX:62917145 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000701679] ChrX:63697256 [GRCh38]
ChrX:62917136 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000693059] ChrX:63678488 [GRCh38]
ChrX:62898368 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717485]|not provided [RCV000731180] ChrX:63655632 [GRCh38]
ChrX:62875512 [GRCh37]
ChrX:Xq11.1
likely benign|uncertain significance
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) single nucleotide variant Autism spectrum disorder [RCV001249525]|Early infantile epileptic encephalopathy 8 [RCV000702734]|not provided [RCV000991545] ChrX:63638126 [GRCh38]
ChrX:62858006 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000688747] ChrX:63674061 [GRCh38]
ChrX:62893941 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000705283] ChrX:63706406 [GRCh38]
ChrX:62926286 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000691206] ChrX:63655521 [GRCh38]
ChrX:62875401 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.87G>A (p.Met29Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000717874] ChrX:63724655 [GRCh38]
ChrX:62944535 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000863705]|History of neurodevelopmental disorder [RCV000719312] ChrX:63638070 [GRCh38]
ChrX:62857950 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=) single nucleotide variant History of neurodevelopmental disorder [RCV000720777] ChrX:63638118 [GRCh38]
ChrX:62857998 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.305G>T (p.Arg102Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000718586] ChrX:63706355 [GRCh38]
ChrX:62926235 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=) single nucleotide variant History of neurodevelopmental disorder [RCV000720536] ChrX:63665952 [GRCh38]
ChrX:62885832 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000815511]|History of neurodevelopmental disorder [RCV000720565] ChrX:63665995 [GRCh38]
ChrX:62885875 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.432G>A (p.Arg144=) single nucleotide variant History of neurodevelopmental disorder [RCV000720667] ChrX:63697275 [GRCh38]
ChrX:62917155 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=) single nucleotide variant History of neurodevelopmental disorder [RCV000720679] ChrX:63724637 [GRCh38]
ChrX:62944517 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1078-3T>G single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001004720] ChrX:63655740 [GRCh38]
ChrX:62875620 [GRCh37]
ChrX:Xq11.1
likely pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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: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 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) deletion Early infantile epileptic encephalopathy 8 [RCV000991201] ChrX:63655509 [GRCh38]
ChrX:62875389 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000904139] ChrX:63678396 [GRCh38]
ChrX:62898276 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.402+7A>T single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000866627] ChrX:63706251 [GRCh38]
ChrX:62926131 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000864883] ChrX:63638157 [GRCh38]
ChrX:62858037 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001058524] ChrX:63655622 [GRCh38]
ChrX:62875502 [GRCh37]
ChrX:Xq11.1
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001353921.2(ARHGEF9):c.31-29459T>C single nucleotide variant Epilepsy [RCV000781962] ChrX:63754170 [GRCh38]
ChrX:62974050 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.211-5C>T single nucleotide variant Epilepsy [RCV000781963] ChrX:63706454 [GRCh38]
ChrX:62926334 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1322-49T>G single nucleotide variant Epilepsy [RCV000781964] ChrX:63644097 [GRCh38]
ChrX:62863977 [GRCh37]
ChrX:Xq11.1
benign
NM_001353921.2(ARHGEF9):c.*146G>C single nucleotide variant Epilepsy [RCV000781965] ChrX:63637882 [GRCh38]
ChrX:62857762 [GRCh37]
ChrX:Xq11.1
likely benign
NC_000023.11:g.63678580dup duplication not provided [RCV000840201] ChrX:Xq11.1 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000910246] ChrX:63706279 [GRCh38]
ChrX:62926159 [GRCh37]
ChrX:Xq11.1
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=) single nucleotide variant not provided [RCV000976957] ChrX:63724544 [GRCh38]
ChrX:62944424 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys) single nucleotide variant Intellectual disability [RCV001251680] ChrX:63638195 [GRCh38]
ChrX:62858075 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.403-3C>T single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000817337] ChrX:63697307 [GRCh38]
ChrX:62917187 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000811210] ChrX:63643981 [GRCh38]
ChrX:62863861 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000803773] ChrX:63697151 [GRCh38]
ChrX:62917031 [GRCh37]
ChrX:Xq11.1
likely pathogenic|uncertain significance
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000809049] ChrX:63638167 [GRCh38]
ChrX:62858047 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000811075] ChrX:63665941 [GRCh38]
ChrX:62885821 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000819297] ChrX:63678367 [GRCh38]
ChrX:62898247 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000824886] ChrX:63665992 [GRCh38]
ChrX:62885872 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000798857] ChrX:63785117 [GRCh38]
ChrX:63004997 [GRCh37]
ChrX:Xq11.1
benign|uncertain significance
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000810840] ChrX:63724666 [GRCh38]
ChrX:62944546 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000808976] ChrX:63638135 [GRCh38]
ChrX:62858015 [GRCh37]
ChrX:Xq11.1
likely benign|uncertain significance
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000823146] ChrX:63678516 [GRCh38]
ChrX:62898396 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001044516] ChrX:63724711 [GRCh38]
ChrX:62944591 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh37/hg19 Xq11.1(chrX:62828965-62891087)x3 copy number gain not provided [RCV000847720] ChrX:62828965..62891087 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001047208] ChrX:63697286 [GRCh38]
ChrX:62917166 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001353921.2(ARHGEF9):c.1261dup (p.Ile421fs) duplication not provided [RCV001008461] ChrX:63655553..63655554 [GRCh38]
ChrX:62875433..62875434 [GRCh37]
ChrX:Xq11.1
likely 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
NM_001353921.2(ARHGEF9):c.16G>A (p.Gly6Ser) single nucleotide variant Autism spectrum disorder [RCV001249524] ChrX:63785130 [GRCh38]
ChrX:63005010 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.31-29588A>G single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001209350] ChrX:63754299 [GRCh38]
ChrX:62974179 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001207472] ChrX:63706399 [GRCh38]
ChrX:62926279 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001224727] ChrX:63644040 [GRCh38]
ChrX:62863920 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His) single nucleotide variant not provided [RCV000995925] ChrX:63706292 [GRCh38]
ChrX:62926172 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup) duplication Early infantile epileptic encephalopathy 8 [RCV001247499] ChrX:63655686..63655687 [GRCh38]
ChrX:62875566..62875567 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.881G>A (p.Arg294His) single nucleotide variant Intellectual disability [RCV001249522] ChrX:63674102 [GRCh38]
ChrX:62893982 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001198047] ChrX:63678503 [GRCh38]
ChrX:62898383 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1391-7A>G single nucleotide variant not provided [RCV000910613] ChrX:63638216 [GRCh38]
ChrX:62858096 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001218561] ChrX:63724650 [GRCh38]
ChrX:62944530 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1141G>T (p.Val381Phe) single nucleotide variant Intellectual disability [RCV001249521] ChrX:63655674 [GRCh38]
ChrX:62875554 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001224908] ChrX:63655567 [GRCh38]
ChrX:62875447 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV000990844] ChrX:63724564 [GRCh38]
ChrX:62944444 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.215G>A (p.Trp72Ter) single nucleotide variant not provided [RCV001008675] ChrX:63706445 [GRCh38]
ChrX:62926325 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val) single nucleotide variant not provided [RCV001092794] ChrX:63666008 [GRCh38]
ChrX:62885888 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1078-1G>A single nucleotide variant not provided [RCV001092793] ChrX:63655738 [GRCh38]
ChrX:62875618 [GRCh37]
ChrX:Xq11.1
likely pathogenic
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001034099] ChrX:63655671 [GRCh38]
ChrX:62875551 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001045879] ChrX:63706341 [GRCh38]
ChrX:62926221 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys) single nucleotide variant Autism spectrum disorder [RCV001249523] ChrX:63674094 [GRCh38]
ChrX:62893974 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.815+5G>C single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001218932] ChrX:63678335 [GRCh38]
ChrX:62898215 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001202402] ChrX:63724570 [GRCh38]
ChrX:62944450 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001034165] ChrX:63697259 [GRCh38]
ChrX:62917139 [GRCh37]
ChrX:Xq11.1
likely benign
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001063213] ChrX:63666015 [GRCh38]
ChrX:62885895 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001039399] ChrX:63674038 [GRCh38]
ChrX:62893918 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer) deletion Early infantile epileptic encephalopathy 8 [RCV001253710] ChrX:63678415 [GRCh38]
ChrX:62898295 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001251162] ChrX:63706285 [GRCh38]
ChrX:62926165 [GRCh37]
ChrX:Xq11.1
likely pathogenic
NM_001353921.2(ARHGEF9):c.875del (p.Asn292fs) deletion Inborn genetic diseases [RCV001266235] ChrX:63674108 [GRCh38]
ChrX:62893988 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.946-7_949del deletion not provided [RCV001311394] ChrX:63666014..63666024 [GRCh38]
ChrX:62885894..62885904 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) single nucleotide variant Inborn genetic diseases [RCV001267081] ChrX:63655700 [GRCh38]
ChrX:62875580 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1077+5C>T single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001303748] ChrX:63665881 [GRCh38]
ChrX:62885761 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001270419] ChrX:63638131 [GRCh38]
ChrX:62858011 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.*2684A>G single nucleotide variant Global developmental delay [RCV001263346] ChrX:63635344 [GRCh38]
ChrX:62855224 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1321G>A (p.Gly441Ser) single nucleotide variant Inborn genetic diseases [RCV001266196] ChrX:63655494 [GRCh38]
ChrX:62875374 [GRCh37]
ChrX:Xq11.1
uncertain significance
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_001353921.2(ARHGEF9):c.1180A>C (p.Ser394Arg) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001316540] ChrX:63655635 [GRCh38]
ChrX:62875515 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.145A>G (p.Asn49Asp) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001306081] ChrX:63724597 [GRCh38]
ChrX:62944477 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.488A>T (p.Tyr163Phe) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001339431] ChrX:63697219 [GRCh38]
ChrX:62917099 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001352093] ChrX:63638039 [GRCh38]
ChrX:62857919 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001350558] ChrX:63697163 [GRCh38]
ChrX:62917043 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.536A>G (p.Asn179Ser) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001281080] ChrX:63697171 [GRCh38]
ChrX:62917051 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1268G>A (p.Trp423Ter) single nucleotide variant not provided [RCV001281640] ChrX:63655547 [GRCh38]
ChrX:62875427 [GRCh37]
ChrX:Xq11.1
pathogenic
NM_001353921.2(ARHGEF9):c.124A>G (p.Ile42Val) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001327205] ChrX:63724618 [GRCh38]
ChrX:62944498 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001303517] ChrX:63678344 [GRCh38]
ChrX:62898224 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.313C>G (p.Gln105Glu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001324146] ChrX:63706347 [GRCh38]
ChrX:62926227 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001306820] ChrX:63638191 [GRCh38]
ChrX:62858071 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.703C>G (p.Gln235Glu) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001305701] ChrX:63678452 [GRCh38]
ChrX:62898332 [GRCh37]
ChrX:Xq11.1
uncertain significance
GRCh37/hg19 Xq11.1(chrX:62893918-62898452)x1 copy number loss not provided [RCV001311124] ChrX:62893918..62898452 [GRCh37]
ChrX:Xq11.1
likely pathogenic
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln) single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001315350] ChrX:63724647 [GRCh38]
ChrX:62944527 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.946-9_946-8insATCCTAGA insertion not provided [RCV001311395] ChrX:63666025..63666026 [GRCh38]
ChrX:62885905..62885906 [GRCh37]
ChrX:Xq11.1
uncertain significance
NM_001353921.2(ARHGEF9):c.402+1G>A single nucleotide variant Early infantile epileptic encephalopathy 8 [RCV001333827] ChrX:63706257 [GRCh38]
ChrX:62926137 [GRCh37]
ChrX:Xq11.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14561 AgrOrtholog
COSMIC ARHGEF9 COSMIC
Ensembl Genes ENSG00000131089 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000253401 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364004 UniProtKB/TrEMBL
  ENSP00000364006 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000364012 UniProtKB/TrEMBL
  ENSP00000399994 UniProtKB/TrEMBL
  ENSP00000485083 UniProtKB/TrEMBL
  ENSP00000485086 UniProtKB/TrEMBL
  ENSP00000485144 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000485160 UniProtKB/TrEMBL
  ENSP00000485282 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000485327 UniProtKB/TrEMBL
  ENSP00000485369 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000485559 UniProtKB/TrEMBL
  ENSP00000485626 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000485633 UniProtKB/TrEMBL
  ENSP00000489637 UniProtKB/TrEMBL
  ENSP00000489670 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000489853 UniProtKB/TrEMBL
  ENSP00000489862 UniProtKB/TrEMBL
  ENSP00000490005 UniProtKB/TrEMBL
  ENSP00000490063 UniProtKB/TrEMBL
  ENSP00000490123 UniProtKB/TrEMBL
  ENSP00000490269 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490408 UniProtKB/TrEMBL
  ENSP00000490410 UniProtKB/TrEMBL
  ENSP00000490459 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490667 UniProtKB/TrEMBL
  ENSP00000490679 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490691 UniProtKB/TrEMBL
  ENSP00000490693 UniProtKB/TrEMBL
  ENSP00000490940 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000492318 UniProtKB/TrEMBL
  ENSP00000499905 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500715 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500825 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500829 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000253401 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374870 UniProtKB/TrEMBL
  ENST00000374872 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000374878 UniProtKB/TrEMBL
  ENST00000437457 UniProtKB/TrEMBL
  ENST00000466925 UniProtKB/TrEMBL
  ENST00000495564 UniProtKB/TrEMBL
  ENST00000623417 UniProtKB/TrEMBL
  ENST00000623517 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000623566 UniProtKB/TrEMBL
  ENST00000624210 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000624355 UniProtKB/TrEMBL
  ENST00000624538 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000624843 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000625116 UniProtKB/TrEMBL
  ENST00000635729 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000635967 UniProtKB/TrEMBL
  ENST00000636048 UniProtKB/TrEMBL
  ENST00000636102 UniProtKB/TrEMBL
  ENST00000636145 UniProtKB/TrEMBL
  ENST00000636276 UniProtKB/TrEMBL
  ENST00000636392 UniProtKB/TrEMBL
  ENST00000636926 UniProtKB/TrEMBL
  ENST00000637040 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637178 UniProtKB/TrEMBL
  ENST00000637417 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637520 UniProtKB/TrEMBL
  ENST00000637557 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637723 UniProtKB/TrEMBL
  ENST00000637855 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000638021 UniProtKB/TrEMBL
  ENST00000639092 UniProtKB/TrEMBL
  ENST00000671741 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000671907 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000672194 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000672513 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131089 GTEx
HGNC ID HGNC:14561 ENTREZGENE
Human Proteome Map ARHGEF9 Human Proteome Map
InterPro ARHGEF9_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain 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
KEGG Report hsa:23229 UniProtKB/Swiss-Prot
NCBI Gene 23229 ENTREZGENE
OMIM 300429 OMIM
  300607 OMIM
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24978 PharmGKB
PRINTS SH3DOMAIN UniProtKB/TrEMBL
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A096LNK4_HUMAN UniProtKB/TrEMBL
  A0A096LNK7_HUMAN UniProtKB/TrEMBL
  A0A096LNQ4_HUMAN UniProtKB/TrEMBL
  A0A096LP05_HUMAN UniProtKB/TrEMBL
  A0A096LPE7_HUMAN UniProtKB/TrEMBL
  A0A096LPI8_HUMAN UniProtKB/TrEMBL
  A0A0A6YYB3_HUMAN UniProtKB/TrEMBL
  A0A0A6YYF8_HUMAN UniProtKB/TrEMBL
  A0A1B0GTF0_HUMAN UniProtKB/TrEMBL
  A0A1B0GU85_HUMAN UniProtKB/TrEMBL
  A0A1B0GV82_HUMAN UniProtKB/TrEMBL
  A0A1B0GV84_HUMAN UniProtKB/TrEMBL
  A0A1B0GVC4_HUMAN UniProtKB/TrEMBL
  A0A1B0GVV2_HUMAN UniProtKB/TrEMBL
  A0A1B0GVX8_HUMAN UniProtKB/TrEMBL
  A0A1B0GWI5_HUMAN UniProtKB/TrEMBL
  A0A1W2PQW9_HUMAN UniProtKB/TrEMBL
  A0A2X0SYV8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZGZ3_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHY9_HUMAN UniProtKB/TrEMBL
  A0A5F9ZI31_HUMAN UniProtKB/TrEMBL
  ARHG9_HUMAN UniProtKB/Swiss-Prot
  B1AMR3 ENTREZGENE, UniProtKB/TrEMBL
  B1AMR4_HUMAN UniProtKB/TrEMBL
  O43307 ENTREZGENE
UniProt Secondary A0A096LNY0 UniProtKB/TrEMBL
  A0A1B0GTC2 UniProtKB/TrEMBL
  A8K1S8 UniProtKB/Swiss-Prot
  B4DHC7 UniProtKB/Swiss-Prot
  F8W7P8 UniProtKB/Swiss-Prot
  Q5JSL6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ARHGEF9  Cdc42 guanine nucleotide exchange factor 9    Cdc42 guanine nucleotide exchange factor (GEF) 9  Symbol and/or name change 5135510 APPROVED