ARHGEF18 (Rho/Rac guanine nucleotide exchange factor 18) - Rat Genome Database

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Gene: ARHGEF18 (Rho/Rac guanine nucleotide exchange factor 18) Homo sapiens
Analyze
Symbol: ARHGEF18
Name: Rho/Rac guanine nucleotide exchange factor 18
RGD ID: 1322915
HGNC Page HGNC
Description: Enables guanyl-nucleotide exchange factor activity. Involved in negative regulation of stress fiber assembly and protein localization to cell-cell junction. Acts upstream of or within actin cytoskeleton organization; regulation of cell shape; and small GTPase mediated signal transduction. Located in apical part of cell; cytosol; and plasma membrane. Implicated in retinitis pigmentosa.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 114 kDa Rho-specific guanine nucleotide exchange factor; KIAA0521; MGC15913; P114-RHO-GEF; P114-RhoGEF; p114RhoGEF; rho guanine nucleotide exchange factor 18; Rho-specific guanine nucleotide exchange factor p114; Rho/Rac guanine nucleotide exchange factor (GEF) 18; RP78; SA-RhoGEF; septin-associated RhoGEF
RGD Orthologs
Mouse
Rat
Chinchilla
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 Ensembl197,348,937 - 7,472,485 (+)EnsemblGRCh38hg38GRCh38
GRCh38197,348,901 - 7,476,990 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37197,413,842 - 7,537,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,351,866 - 7,443,371 (+)NCBINCBI36hg18NCBI36
Build 34197,351,865 - 7,443,370NCBI
Celera197,331,115 - 7,409,876 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef197,128,031 - 7,179,714 (+)NCBIHuRef
HuRef197,186,895 - 7,208,106 (+)NCBIHuRef
CHM1_1197,459,437 - 7,537,381 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9628581   PMID:11085924   PMID:11318610   PMID:11756498   PMID:12376548   PMID:12477932   PMID:12787561   PMID:14512443   PMID:16344560   PMID:17643375   PMID:18029348   PMID:18570454  
PMID:20200978   PMID:20810787   PMID:20811636   PMID:21258369   PMID:21873635   PMID:22006950   PMID:22445761   PMID:23185572   PMID:23648482   PMID:25753039   PMID:26186194   PMID:26217016  
PMID:26638075   PMID:26949251   PMID:28132693   PMID:28514442   PMID:28611215   PMID:29507755   PMID:29601110   PMID:30405854   PMID:30581152   PMID:30655611   PMID:31091453   PMID:31741433  
PMID:32203420   PMID:32908313   PMID:34079125  


Genomics

Comparative Map Data
ARHGEF18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl197,348,937 - 7,472,485 (+)EnsemblGRCh38hg38GRCh38
GRCh38197,348,901 - 7,476,990 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37197,413,842 - 7,537,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,351,866 - 7,443,371 (+)NCBINCBI36hg18NCBI36
Build 34197,351,865 - 7,443,370NCBI
Celera197,331,115 - 7,409,876 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef197,128,031 - 7,179,714 (+)NCBIHuRef
HuRef197,186,895 - 7,208,106 (+)NCBIHuRef
CHM1_1197,459,437 - 7,537,381 (+)NCBICHM1_1
Arhgef18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3983,403,339 - 3,506,601 (+)NCBIGRCm39mm39
GRCm39 Ensembl83,403,415 - 3,506,601 (+)Ensembl
GRCm3883,353,338 - 3,456,601 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl83,353,415 - 3,456,601 (+)EnsemblGRCm38mm10GRCm38
MGSCv3783,393,008 - 3,456,600 (+)NCBIGRCm37mm9NCBIm37
MGSCv3683,393,008 - 3,456,600 (+)NCBImm8
Celera83,618,863 - 3,682,398 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
Arhgef18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2121,395,035 - 1,503,081 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl121,889,331 - 1,998,127 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0121,889,252 - 1,998,128 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0124,056,145 - 4,161,174 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4122,712,198 - 2,855,137 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1122,713,997 - 2,740,671 (-)NCBI
Celera123,250,654 - 3,359,236 (+)NCBICelera
Cytogenetic Map12p12NCBI
Arhgef18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555631,746,838 - 1,772,772 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555631,745,202 - 1,823,411 (-)NCBIChiLan1.0ChiLan1.0
ARHGEF18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12052,196,670 - 52,281,491 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2052,201,007 - 52,283,000 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2052,001,555 - 52,087,194 (+)NCBI
ROS_Cfam_1.02052,726,796 - 52,812,572 (+)NCBI
UMICH_Zoey_3.12051,930,590 - 52,016,159 (+)NCBI
UNSW_CanFamBas_1.02052,374,118 - 52,459,723 (+)NCBI
UU_Cfam_GSD_1.02052,604,731 - 52,690,664 (+)NCBI
Arhgef18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,262,232 - 213,334,821 (-)NCBI
SpeTri2.0NW_0049365884,522,517 - 4,572,551 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGEF18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl271,651,100 - 71,747,410 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1271,651,096 - 71,747,513 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2272,176,541 - 72,198,429 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGEF18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.166,846,595 - 6,972,701 (+)NCBI
ChlSab1.1 Ensembl66,869,318 - 6,973,989 (+)Ensembl
Vero_WHO_p1.0NW_023666081898,649 - 1,027,439 (-)NCBI
Arhgef18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624828529,529 - 604,996 (+)NCBI

Position Markers
D19S901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,481,395 - 7,481,546UniSTSGRCh37
GRCh379121,508,952 - 121,509,311UniSTSGRCh37
Build 369120,548,773 - 120,549,132RGDNCBI36
Celera197,352,510 - 7,352,668UniSTS
Celera992,156,647 - 92,157,006RGD
HuRef150,392,272 - 50,392,734UniSTS
HuRef1334,091,986 - 34,092,393UniSTS
HuRef197,149,672 - 7,149,830UniSTS
Marshfield Genetic Map1925.17RGD
Marshfield Genetic Map1925.17UniSTS
Genethon Genetic Map1924.7UniSTS
TNG Radiation Hybrid Map191462.0UniSTS
deCODE Assembly Map1924.07UniSTS
WI-14772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,537,204 - 7,537,353UniSTSGRCh37
Build 36197,443,204 - 7,443,353RGDNCBI36
Celera197,409,709 - 7,409,858RGD
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map19p13.3UniSTS
HuRef197,207,939 - 7,208,088UniSTS
GeneMap99-GB4 RH Map1952.06UniSTS
Whitehead-RH Map1923.5UniSTS
NCBI RH Map193.0UniSTS
RH78224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,535,639 - 7,535,759UniSTSGRCh37
Build 36197,441,639 - 7,441,759RGDNCBI36
Celera197,408,144 - 7,408,264RGD
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map19p13.3UniSTS
HuRef197,206,374 - 7,206,494UniSTS
GeneMap99-GB4 RH Map1941.86UniSTS
ARHGEF18_8009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,536,845 - 7,537,523UniSTSGRCh37
Build 36197,442,845 - 7,443,523RGDNCBI36
Celera197,409,350 - 7,410,028RGD
HuRef197,207,580 - 7,208,258UniSTS
2058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,535,462 - 7,535,542UniSTSGRCh37
Build 36197,441,462 - 7,441,542RGDNCBI36
Celera197,407,967 - 7,408,047RGD
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map19p13.3UniSTS
HuRef197,206,197 - 7,206,277UniSTS
GeneMap99-GB4 RH Map1941.65UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5012
Count of miRNA genes:918
Interacting mature miRNAs:1116
Transcripts:ENST00000319670, ENST00000359920, ENST00000593531, ENST00000594665, ENST00000595600, ENST00000599752
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2271 1919 1331 238 1259 103 3160 876 2457 235 1284 1384 143 879 1965
Low 169 1071 390 376 938 352 1198 1319 1277 185 176 230 32 1 325 823 6 2
Below cutoff 21 9 33 24 231 25 13 9 5 33 25 36

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA609742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA829883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB011093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC077721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ055909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX404969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB075637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000319670   ⟹   ENSP00000319200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,395,113 - 7,472,477 (+)Ensembl
RefSeq Acc Id: ENST00000359920   ⟹   ENSP00000352995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,439,688 - 7,472,477 (+)Ensembl
RefSeq Acc Id: ENST00000594665   ⟹   ENSP00000470729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,447,063 - 7,472,477 (+)Ensembl
RefSeq Acc Id: ENST00000595600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,441,719 - 7,444,429 (+)Ensembl
RefSeq Acc Id: ENST00000599752   ⟹   ENSP00000471597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,395,152 - 7,441,990 (+)Ensembl
RefSeq Acc Id: ENST00000617428   ⟹   ENSP00000482647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,439,688 - 7,472,484 (+)Ensembl
RefSeq Acc Id: ENST00000668164   ⟹   ENSP00000499655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,382,834 - 7,470,241 (+)Ensembl
RefSeq Acc Id: ENST00000671891   ⟹   ENSP00000500339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,355,616 - 7,383,203 (+)Ensembl
RefSeq Acc Id: NM_001130955   ⟹   NP_001124427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,439,688 - 7,472,478 (+)NCBI
GRCh37197,420,481 - 7,537,371 (+)NCBI
Celera197,331,115 - 7,409,876 (+)RGD
HuRef197,128,031 - 7,179,714 (+)ENTREZGENE
HuRef197,186,895 - 7,208,106 (+)NCBI
CHM1_1197,504,027 - 7,537,381 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367823   ⟹   NP_001354752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,348,937 - 7,472,478 (+)NCBI
RefSeq Acc Id: NM_001367824   ⟹   NP_001354753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,395,145 - 7,472,478 (+)NCBI
RefSeq Acc Id: NM_015318   ⟹   NP_056133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,395,145 - 7,472,478 (+)NCBI
GRCh37197,420,481 - 7,537,371 (+)NCBI
Build 36197,351,866 - 7,443,371 (+)NCBI Archive
Celera197,331,115 - 7,409,876 (+)RGD
HuRef197,128,031 - 7,179,714 (+)ENTREZGENE
HuRef197,186,895 - 7,208,106 (+)NCBI
CHM1_1197,459,437 - 7,537,381 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272464   ⟹   XP_005272521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,355,495 - 7,472,485 (+)NCBI
GRCh37197,420,481 - 7,537,371 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722706   ⟹   XP_006722769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,348,901 - 7,472,485 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527835   ⟹   XP_011526137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,355,495 - 7,472,485 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527836   ⟹   XP_011526138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,355,495 - 7,476,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527837   ⟹   XP_011526139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,355,495 - 7,470,183 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527838   ⟹   XP_011526140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,362,932 - 7,472,485 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527839   ⟹   XP_011526141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,362,871 - 7,472,485 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527840   ⟹   XP_011526142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,395,145 - 7,472,485 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527841   ⟹   XP_011526143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,355,502 - 7,463,775 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056133   ⟸   NM_015318
- Peptide Label: isoform a
- UniProtKB: Q6ZSZ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124427   ⟸   NM_001130955
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: XP_005272521   ⟸   XM_005272464
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006722769   ⟸   XM_006722706
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011526138   ⟸   XM_011527836
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526137   ⟸   XM_011527835
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526139   ⟸   XM_011527837
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526143   ⟸   XM_011527841
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011526141   ⟸   XM_011527839
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011526140   ⟸   XM_011527838
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011526142   ⟸   XM_011527840
- Peptide Label: isoform X6
- UniProtKB: Q6ZSZ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001354752   ⟸   NM_001367823
- Peptide Label: isoform c
RefSeq Acc Id: NP_001354753   ⟸   NM_001367824
- Peptide Label: isoform a
RefSeq Acc Id: ENSP00000470729   ⟸   ENST00000594665
RefSeq Acc Id: ENSP00000352995   ⟸   ENST00000359920
RefSeq Acc Id: ENSP00000471597   ⟸   ENST00000599752
RefSeq Acc Id: ENSP00000499655   ⟸   ENST00000668164
RefSeq Acc Id: ENSP00000482647   ⟸   ENST00000617428
RefSeq Acc Id: ENSP00000319200   ⟸   ENST00000319670
RefSeq Acc Id: ENSP00000500339   ⟸   ENST00000671891
Protein Domains
C2H2-type   DH   PH

Promoters
RGD ID:6795414
Promoter ID:HG_KWN:28698
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000398026,   UC002MGH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36197,365,771 - 7,366,271 (+)MPROMDB
RGD ID:7238271
Promoter ID:EPDNEW_H24881
Type:initiation region
Name:ARHGEF18_1
Description:Rho/Rac guanine nucleotide exchange factor 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24882  EPDNEW_H24883  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,395,145 - 7,395,205EPDNEW
RGD ID:7238273
Promoter ID:EPDNEW_H24882
Type:initiation region
Name:ARHGEF18_3
Description:Rho/Rac guanine nucleotide exchange factor 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24881  EPDNEW_H24883  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,441,706 - 7,441,766EPDNEW
RGD ID:7238275
Promoter ID:EPDNEW_H24883
Type:multiple initiation site
Name:ARHGEF18_2
Description:Rho/Rac guanine nucleotide exchange factor 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24881  EPDNEW_H24882  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,451,290 - 7,451,350EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3 copy number gain See cases [RCV000054108] Chr19:7194917..7827432 [GRCh38]
Chr19:7194928..7892318 [GRCh37]
Chr19:7145928..7798318 [NCBI36]
Chr19:19p13.2
uncertain significance
NM_015318.3(ARHGEF18):c.-71-18798A>G single nucleotide variant Lung cancer [RCV000101346] Chr19:7421546 [GRCh38]
Chr19:7486432 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_015318.4(ARHGEF18):c.935C>A (p.Ala312Glu) single nucleotide variant not provided [RCV000122489] Chr19:7453584 [GRCh38]
Chr19:7518470 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2421G>A (p.Glu807=) single nucleotide variant not provided [RCV001494105] Chr19:7459963 [GRCh38]
Chr19:7524849 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3537_3538delinsGA (p.Val1180Met) indel not provided [RCV001367599] Chr19:7468881..7468882 [GRCh38]
Chr19:7533767..7533768 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:7528817-7589886)x3 copy number gain not provided [RCV000752549] Chr19:7528817..7589886 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2181+5G>A single nucleotide variant Retinitis pigmentosa 78 [RCV000477671] Chr19:7456408 [GRCh38]
Chr19:7521294 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.2560C>T (p.Arg854Ter) single nucleotide variant Retinitis pigmentosa 78 [RCV000477673] Chr19:7462259 [GRCh38]
Chr19:7527145 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.3302_3325del (p.Arg1101_Glu1108del) deletion Retinitis pigmentosa 78 [RCV000477691] Chr19:7467501..7467524 [GRCh38]
Chr19:7532387..7532410 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.1372A>G (p.Thr458Ala) single nucleotide variant Retinitis pigmentosa 78 [RCV000477721] Chr19:7444215 [GRCh38]
Chr19:7509101 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.3196G>T (p.Glu1066Ter) single nucleotide variant Retinitis pigmentosa 78 [RCV000477725] Chr19:7467400 [GRCh38]
Chr19:7532286 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.2(chr19:7451741-7463619)x1 copy number loss not provided [RCV000740025] Chr19:7451741..7463619 [GRCh37]
Chr19:19p13.2
benign
NM_015318.4(ARHGEF18):c.-71-326G>C single nucleotide variant not provided [RCV000914297] Chr19:7440018 [GRCh38]
Chr19:7504904 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2048G>A (p.Arg683Gln) single nucleotide variant not provided [RCV001053429] Chr19:7453659 [GRCh38]
Chr19:7518545 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1612-6T>C single nucleotide variant not provided [RCV001054306] Chr19:7447037 [GRCh38]
Chr19:7511923 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2590G>A (p.Glu864Lys) single nucleotide variant not provided [RCV001056542] Chr19:7462289 [GRCh38]
Chr19:7527175 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3011C>T (p.Ala1004Val) single nucleotide variant not provided [RCV001057092] Chr19:7467215 [GRCh38]
Chr19:7532101 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2698G>A (p.Gly900Arg) single nucleotide variant not provided [RCV001058857] Chr19:7463880 [GRCh38]
Chr19:7528766 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:7508522-7624054)x3 copy number gain not provided [RCV000752546] Chr19:7508522..7624054 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.2(chr19:7527216-7611117)x3 copy number gain not provided [RCV000752547] Chr19:7527216..7611117 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.2(chr19:7527216-7618660)x3 copy number gain not provided [RCV000752548] Chr19:7527216..7618660 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1593C>T (p.Gly531=) single nucleotide variant not provided [RCV001060577] Chr19:7444436 [GRCh38]
Chr19:7509322 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1105G>A (p.Gly369Arg) single nucleotide variant not provided [RCV000884899] Chr19:7440481 [GRCh38]
Chr19:7505367 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.4028C>T (p.Pro1343Leu) single nucleotide variant not provided [RCV000899270] Chr19:7470240 [GRCh38]
Chr19:7535126 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2742G>A (p.Ala914=) single nucleotide variant not provided [RCV000936565] Chr19:7463924 [GRCh38]
Chr19:7528810 [GRCh37]
Chr19:19p13.2
likely benign
NM_015318.4(ARHGEF18):c.2203C>T (p.Leu735=) single nucleotide variant not provided [RCV000975461] Chr19:7467445 [GRCh38]
Chr19:7532331 [GRCh37]
Chr19:19p13.2
likely benign
NM_015318.4(ARHGEF18):c.189C>T (p.Tyr63=) single nucleotide variant not provided [RCV000923195] Chr19:7441919 [GRCh38]
Chr19:7506805 [GRCh37]
Chr19:19p13.2
likely benign
NM_015318.4(ARHGEF18):c.258C>G (p.Ala86=) single nucleotide variant not provided [RCV000901764] Chr19:7441988 [GRCh38]
Chr19:7506874 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3661G>A (p.Ala1221Thr) single nucleotide variant not provided [RCV000882062] Chr19:7469005 [GRCh38]
Chr19:7533891 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3556G>A (p.Gly1186Ser) single nucleotide variant not provided [RCV000899192] Chr19:7468900 [GRCh38]
Chr19:7533786 [GRCh37]
Chr19:19p13.2
likely benign
NM_015318.4(ARHGEF18):c.1599C>T (p.Ile533=) single nucleotide variant not provided [RCV000899391] Chr19:7463819 [GRCh38]
Chr19:7528705 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1070C>A (p.Pro357Gln) single nucleotide variant not provided [RCV000883528] Chr19:7440446 [GRCh38]
Chr19:7505332 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3480+5G>A single nucleotide variant not provided [RCV000972092] Chr19:7467689 [GRCh38]
Chr19:7532575 [GRCh37]
Chr19:19p13.2
benign
NM_015318.4(ARHGEF18):c.2715C>A (p.Gly905=) single nucleotide variant not provided [RCV000923753] Chr19:7469097 [GRCh38]
Chr19:7533983 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3185A>G (p.Gln1062Arg) single nucleotide variant not provided [RCV001038320] Chr19:7467389 [GRCh38]
Chr19:7532275 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1522C>T (p.Arg508Trp) single nucleotide variant not provided [RCV001039967] Chr19:7444365 [GRCh38]
Chr19:7509251 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2665_2666inv (p.Gln889Trp) inversion not provided [RCV001045235] Chr19:7463847..7463848 [GRCh38]
Chr19:7528733..7528734 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1567C>T (p.Arg523Trp) single nucleotide variant not provided [RCV001068884] Chr19:7444410 [GRCh38]
Chr19:7509296 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3581G>A (p.Arg1194His) single nucleotide variant not provided [RCV001042139] Chr19:7468925 [GRCh38]
Chr19:7533811 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3259C>T (p.Arg1087Trp) single nucleotide variant not provided [RCV001042459] Chr19:7467463 [GRCh38]
Chr19:7532349 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2239G>A (p.Glu747Lys) single nucleotide variant not provided [RCV001047057] Chr19:7458569 [GRCh38]
Chr19:7523455 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2897C>T (p.Pro966Leu) single nucleotide variant not provided [RCV001042758] Chr19:7464683 [GRCh38]
Chr19:7529569 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1402A>G (p.Ile468Val) single nucleotide variant not provided [RCV001049182] Chr19:7444245 [GRCh38]
Chr19:7509131 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2482G>A (p.Ala828Thr) single nucleotide variant not provided [RCV001049516] Chr19:7462181 [GRCh38]
Chr19:7527067 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2819G>A (p.Arg940Gln) single nucleotide variant not provided [RCV000908008] Chr19:7464605 [GRCh38]
Chr19:7529491 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3855G>A (p.Arg1285=) single nucleotide variant not provided [RCV000954767] Chr19:7469971 [GRCh38]
Chr19:7534857 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.968-359T>A single nucleotide variant not provided [RCV000888404] Chr19:7439985 [GRCh38]
Chr19:7504871 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.968-273C>G single nucleotide variant not provided [RCV000893725] Chr19:7440071 [GRCh38]
Chr19:7504957 [GRCh37]
Chr19:19p13.2
likely benign
NM_015318.4(ARHGEF18):c.1645G>A (p.Gly549Ser) single nucleotide variant not provided [RCV000909194] Chr19:7463865 [GRCh38]
Chr19:7528751 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1230C>T (p.Thr410=) single nucleotide variant not provided [RCV000963378] Chr19:7441922 [GRCh38]
Chr19:7506808 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3783C>T (p.Ser1261=) single nucleotide variant not provided [RCV000901035] Chr19:7469127 [GRCh38]
Chr19:7534013 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1358A>T (p.Tyr453Phe) single nucleotide variant not provided [RCV000894337] Chr19:7442050 [GRCh38]
Chr19:7506936 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2104+9C>G single nucleotide variant not provided [RCV000904910] Chr19:7453724 [GRCh38]
Chr19:7518610 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3928G>A (p.Ala1310Thr) single nucleotide variant not provided [RCV000961584] Chr19:7470140 [GRCh38]
Chr19:7535026 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1222C>T (p.Pro408Ser) single nucleotide variant not provided [RCV000879178] Chr19:7441914 [GRCh38]
Chr19:7506800 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1386C>T (p.His462=) single nucleotide variant not provided [RCV000914884] Chr19:7444229 [GRCh38]
Chr19:7509115 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1219+4T>C single nucleotide variant not provided [RCV000892999] Chr19:7441769 [GRCh38]
Chr19:7506655 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1981A>G (p.Met661Val) single nucleotide variant not provided [RCV001053471] Chr19:7453592 [GRCh38]
Chr19:7518478 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3295C>T (p.Arg1099Cys) single nucleotide variant not provided [RCV001053646] Chr19:7467499 [GRCh38]
Chr19:7532385 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2589C>T (p.Ser863=) single nucleotide variant not provided [RCV000919270] Chr19:7462288 [GRCh38]
Chr19:7527174 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2610A>G (p.Leu870=) single nucleotide variant not provided [RCV000958442] Chr19:7462309 [GRCh38]
Chr19:7527195 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1391G>A (p.Arg464Gln) single nucleotide variant not provided [RCV001055083] Chr19:7444234 [GRCh38]
Chr19:7509120 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2661_2670del (p.Cys887fs) deletion not provided [RCV001211648] Chr19:7463840..7463849 [GRCh38]
Chr19:7528726..7528735 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.3074A>G (p.Lys1025Arg) single nucleotide variant not provided [RCV001202605] Chr19:7467278 [GRCh38]
Chr19:7532164 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3961G>A (p.Glu1321Lys) single nucleotide variant not provided [RCV001230183] Chr19:7470173 [GRCh38]
Chr19:7535059 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.4003G>A (p.Gly1335Arg) single nucleotide variant not provided [RCV001248727] Chr19:7470215 [GRCh38]
Chr19:7535101 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1006G>T (p.Asp336Tyr) single nucleotide variant not provided [RCV001238759] Chr19:7440382 [GRCh38]
Chr19:7505268 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1322A>C (p.Gln441Pro) single nucleotide variant not provided [RCV001226375] Chr19:7442014 [GRCh38]
Chr19:7506900 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_015318.4(ARHGEF18):c.1676G>A (p.Gly559Asp) single nucleotide variant not provided [RCV001242631] Chr19:7463896 [GRCh38]
Chr19:7528782 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-250G>C single nucleotide variant not provided [RCV001239558] Chr19:7440094 [GRCh38]
Chr19:7504980 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1561A>C (p.Ser521Arg) single nucleotide variant not provided [RCV001208842] Chr19:7444404 [GRCh38]
Chr19:7509290 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1855+6C>T single nucleotide variant not provided [RCV001237570] Chr19:7451272 [GRCh38]
Chr19:7516158 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3159C>T (p.Arg1053=) single nucleotide variant not provided [RCV001237802] Chr19:7467363 [GRCh38]
Chr19:7532249 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1003T>C (p.Ser335Pro) single nucleotide variant not provided [RCV001237865] Chr19:7440379 [GRCh38]
Chr19:7505265 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1588dup (p.Ile530fs) duplication not provided [RCV001245552] Chr19:7444427..7444428 [GRCh38]
Chr19:7509313..7509314 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.3599G>A (p.Arg1200Gln) single nucleotide variant not provided [RCV001238250] Chr19:7468943 [GRCh38]
Chr19:7533829 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3499C>T (p.Pro1167Ser) single nucleotide variant not provided [RCV001238429] Chr19:7468843 [GRCh38]
Chr19:7533729 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-84_968-83inv inversion not provided [RCV001225516] Chr19:7440260..7440261 [GRCh38]
Chr19:7505146..7505147 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3910C>G (p.Pro1304Ala) single nucleotide variant not provided [RCV001242132] Chr19:7470026 [GRCh38]
Chr19:7534912 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1849A>C (p.Thr617Pro) single nucleotide variant not provided [RCV001210650] Chr19:7451260 [GRCh38]
Chr19:7516146 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2573G>A (p.Arg858His) single nucleotide variant not provided [RCV001204200] Chr19:7462272 [GRCh38]
Chr19:7527158 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2536G>A (p.Gly846Ser) single nucleotide variant not provided [RCV001202427] Chr19:7462235 [GRCh38]
Chr19:7527121 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_015318.4(ARHGEF18):c.105G>A (p.Ala35=) single nucleotide variant not provided [RCV000931549] Chr19:7441689 [GRCh38]
Chr19:7506575 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-194C>T single nucleotide variant not provided [RCV000887260] Chr19:7440150 [GRCh38]
Chr19:7505036 [GRCh37]
Chr19:19p13.2
likely benign
NM_015318.4(ARHGEF18):c.1414+9G>A single nucleotide variant not provided [RCV000908007] Chr19:7460003 [GRCh38]
Chr19:7524889 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3593C>T (p.Ala1198Val) single nucleotide variant not provided [RCV000954514] Chr19:7468937 [GRCh38]
Chr19:7533823 [GRCh37]
Chr19:19p13.2
benign
NM_015318.4(ARHGEF18):c.2142G>A (p.Gln714=) single nucleotide variant not provided [RCV000980328] Chr19:7467384 [GRCh38]
Chr19:7532270 [GRCh37]
Chr19:19p13.2
likely benign
NM_015318.4(ARHGEF18):c.933C>T (p.Ile311=) single nucleotide variant not provided [RCV000931056] Chr19:7453582 [GRCh38]
Chr19:7518468 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2541C>T (p.Leu847=) single nucleotide variant not provided [RCV000909212] Chr19:7462240 [GRCh38]
Chr19:7527126 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1699C>G (p.Leu567Val) single nucleotide variant not provided [RCV000880040] Chr19:7447130 [GRCh38]
Chr19:7512016 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-230G>A single nucleotide variant not provided [RCV000892998] Chr19:7440114 [GRCh38]
Chr19:7505000 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2709C>T (p.Ser903=) single nucleotide variant not provided [RCV000970901] Chr19:7463891 [GRCh38]
Chr19:7528777 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2922G>A (p.Thr974=) single nucleotide variant not provided [RCV000953384] Chr19:7466935 [GRCh38]
Chr19:7531821 [GRCh37]
Chr19:19p13.2
benign
NM_015318.4(ARHGEF18):c.1593C>T (p.Ser531=) single nucleotide variant not provided [RCV000949041] Chr19:7462330 [GRCh38]
Chr19:7527216 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.968-67C>T single nucleotide variant not provided [RCV000951338] Chr19:7440277 [GRCh38]
Chr19:7505163 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1523G>A (p.Arg508Gln) single nucleotide variant not provided [RCV001244813] Chr19:7444366 [GRCh38]
Chr19:7509252 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2690C>T (p.Ala897Val) single nucleotide variant not provided [RCV001243041] Chr19:7463872 [GRCh38]
Chr19:7528758 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1261G>A (p.Gly421Ser) single nucleotide variant not provided [RCV001227478] Chr19:7441953 [GRCh38]
Chr19:7506839 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3206G>A (p.Arg1069His) single nucleotide variant not provided [RCV001245526] Chr19:7467410 [GRCh38]
Chr19:7532296 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3542G>A (p.Ser1181Asn) single nucleotide variant not provided [RCV001227805] Chr19:7468886 [GRCh38]
Chr19:7533772 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-75G>C single nucleotide variant not provided [RCV001227824] Chr19:7440269 [GRCh38]
Chr19:7505155 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1312G>A (p.Ala438Thr) single nucleotide variant not provided [RCV001245563] Chr19:7442004 [GRCh38]
Chr19:7506890 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1552G>C (p.Glu518Gln) single nucleotide variant not provided [RCV001237897] Chr19:7444395 [GRCh38]
Chr19:7509281 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3986del (p.Gly1329fs) deletion not provided [RCV001221502] Chr19:7470194 [GRCh38]
Chr19:7535080 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3224A>G (p.Gln1075Arg) single nucleotide variant not provided [RCV001238565] Chr19:7467428 [GRCh38]
Chr19:7532314 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2581G>A (p.Asp861Asn) single nucleotide variant not provided [RCV001225576] Chr19:7462280 [GRCh38]
Chr19:7527166 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-119G>A single nucleotide variant not provided [RCV000957854] Chr19:7440225 [GRCh38]
Chr19:7505111 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1494G>A (p.Leu498=) single nucleotide variant not provided [RCV000957855] Chr19:7444337 [GRCh38]
Chr19:7509223 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3321C>G (p.Ala1107=) single nucleotide variant not provided [RCV000911594] Chr19:7467525 [GRCh38]
Chr19:7532411 [GRCh37]
Chr19:19p13.2
benign
NM_015318.4(ARHGEF18):c.-67G>A single nucleotide variant not provided [RCV000911842] Chr19:7440348 [GRCh38]
Chr19:7505234 [GRCh37]
Chr19:19p13.2
likely benign
NM_015318.4(ARHGEF18):c.465G>A (p.Thr155=) single nucleotide variant not provided [RCV000911879] Chr19:7444346 [GRCh38]
Chr19:7509232 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1782G>A (p.Glu594=) single nucleotide variant not provided [RCV000890284] Chr19:7451193 [GRCh38]
Chr19:7516079 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2452+7G>A single nucleotide variant not provided [RCV000890713] Chr19:7460001 [GRCh38]
Chr19:7524887 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1469G>T (p.Arg490Leu) single nucleotide variant Retinitis pigmentosa 78 [RCV001005007]|not provided [RCV001346584] Chr19:7444312 [GRCh38]
Chr19:7509198 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2087C>T (p.Thr696Ile) single nucleotide variant not provided [RCV001067847] Chr19:7453698 [GRCh38]
Chr19:7518584 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1076C>T (p.Pro359Leu) single nucleotide variant not provided [RCV001070416] Chr19:7440452 [GRCh38]
Chr19:7505338 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2839A>C (p.Asn947His) single nucleotide variant not provided [RCV001068524] Chr19:7464625 [GRCh38]
Chr19:7529511 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys) single nucleotide variant Retinitis pigmentosa 78 [RCV001005008]|not provided [RCV001372082] Chr19:7468924 [GRCh38]
Chr19:7533810 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1834C>T (p.Arg612Cys) single nucleotide variant not provided [RCV001066841] Chr19:7451245 [GRCh38]
Chr19:7516131 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3908C>A (p.Pro1303Gln) single nucleotide variant not provided [RCV001067261] Chr19:7470024 [GRCh38]
Chr19:7534910 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1840A>C (p.Ile614Leu) single nucleotide variant not provided [RCV001039301] Chr19:7451251 [GRCh38]
Chr19:7516137 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3886G>A (p.Gly1296Ser) single nucleotide variant not provided [RCV001047706] Chr19:7470002 [GRCh38]
Chr19:7534888 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2047C>T (p.Arg683Trp) single nucleotide variant not provided [RCV001246753] Chr19:7453658 [GRCh38]
Chr19:7518544 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1603G>A (p.Val535Ile) single nucleotide variant Retinal dystrophy [RCV001074114]|not provided [RCV001407790] Chr19:7444446 [GRCh38]
Chr19:7509332 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001367823.1(ARHGEF18):c.3354C>G (p.His1118Gln) single nucleotide variant Retinal dystrophy [RCV001074115]|not provided [RCV001322565] Chr19:7467558 [GRCh38]
Chr19:7532444 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3222C>T (p.Arg1074=) single nucleotide variant not provided [RCV001237192] Chr19:7467426 [GRCh38]
Chr19:7532312 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3788C>T (p.Ala1263Val) single nucleotide variant not provided [RCV001230295] Chr19:7469904 [GRCh38]
Chr19:7534790 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-152A>C single nucleotide variant not provided [RCV001247739] Chr19:7440192 [GRCh38]
Chr19:7505078 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3287G>T (p.Arg1096Leu) single nucleotide variant not provided [RCV001070600] Chr19:7467491 [GRCh38]
Chr19:7532377 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-267C>T single nucleotide variant not provided [RCV001034158] Chr19:7440077 [GRCh38]
Chr19:7504963 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3208T>G (p.Trp1070Gly) single nucleotide variant not provided [RCV001247552] Chr19:7467412 [GRCh38]
Chr19:7532298 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2104+4A>C single nucleotide variant not provided [RCV001234883] Chr19:7453719 [GRCh38]
Chr19:7518605 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-75G>A single nucleotide variant not provided [RCV001208513] Chr19:7440269 [GRCh38]
Chr19:7505155 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1878C>A (p.Asp626Glu) single nucleotide variant not provided [RCV001204680] Chr19:7453489 [GRCh38]
Chr19:7518375 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2866A>G (p.Ser956Gly) single nucleotide variant not provided [RCV001036580] Chr19:7464652 [GRCh38]
Chr19:7529538 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3217G>A (p.Glu1073Lys) single nucleotide variant not provided [RCV001044823] Chr19:7467421 [GRCh38]
Chr19:7532307 [GRCh37]
Chr19:19p13.2
benign|uncertain significance
NM_001367823.1(ARHGEF18):c.2961+6C>T single nucleotide variant not provided [RCV001044915] Chr19:7466980 [GRCh38]
Chr19:7531866 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1900A>G (p.Ile634Val) single nucleotide variant not provided [RCV001235436] Chr19:7453511 [GRCh38]
Chr19:7518397 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3559G>C (p.Val1187Leu) single nucleotide variant not provided [RCV001045951] Chr19:7468903 [GRCh38]
Chr19:7533789 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1502C>T (p.Thr501Met) single nucleotide variant not provided [RCV001038359] Chr19:7444345 [GRCh38]
Chr19:7509231 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2542G>A (p.Glu848Lys) single nucleotide variant not provided [RCV001207207] Chr19:7462241 [GRCh38]
Chr19:7527127 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_015318.4(ARHGEF18):c.1426A>G (p.Met476Val) single nucleotide variant not provided [RCV001247520] Chr19:7462163 [GRCh38]
Chr19:7527049 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2428G>A (p.Ala810Thr) single nucleotide variant not provided [RCV001037536] Chr19:7459970 [GRCh38]
Chr19:7524856 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2289G>A (p.Met763Ile) single nucleotide variant Retinal dystrophy [RCV001073338]|not provided [RCV001343154] Chr19:7458619 [GRCh38]
Chr19:7523505 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1742T>C (p.Ile581Thr) single nucleotide variant not provided [RCV001205226] Chr19:7451153 [GRCh38]
Chr19:7516039 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_015318.4(ARHGEF18):c.2327_2377del (p.Arg776_Glu792del) deletion Retinal dystrophy [RCV001075082] Chr19:7467561..7467611 [GRCh38]
Chr19:7532447..7532497 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3397G>C (p.Glu1133Gln) single nucleotide variant not provided [RCV001212009] Chr19:7467601 [GRCh38]
Chr19:7532487 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1061G>A (p.Gly354Asp) single nucleotide variant not provided [RCV001231731] Chr19:7440437 [GRCh38]
Chr19:7505323 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3986_3987delinsTT (p.Gly1329Val) indel not provided [RCV001312708] Chr19:7470198..7470199 [GRCh38]
Chr19:7535084..7535085 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2905-1G>T single nucleotide variant Retinitis pigmentosa 78 [RCV001332877] Chr19:7466917 [GRCh38]
Chr19:7531803 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001367823.1(ARHGEF18):c.2935C>T (p.Arg979Cys) single nucleotide variant not provided [RCV001315803] Chr19:7466948 [GRCh38]
Chr19:7531834 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3793T>G (p.Phe1265Val) single nucleotide variant not provided [RCV001340928] Chr19:7469909 [GRCh38]
Chr19:7534795 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3853C>T (p.Arg1285Trp) single nucleotide variant not provided [RCV001297912] Chr19:7469969 [GRCh38]
Chr19:7534855 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1651G>A (p.Gly551Ser) single nucleotide variant not provided [RCV001314737] Chr19:7447082 [GRCh38]
Chr19:7511968 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-319A>G single nucleotide variant not provided [RCV001339649] Chr19:7440025 [GRCh38]
Chr19:7504911 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3044C>T (p.Thr1015Met) single nucleotide variant not provided [RCV001295762] Chr19:7467248 [GRCh38]
Chr19:7532134 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2028C>T (p.Arg676=) single nucleotide variant not provided [RCV001299314] Chr19:7453639 [GRCh38]
Chr19:7518525 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2089T>G (p.Ser697Ala) single nucleotide variant Retinitis pigmentosa 78 [RCV001336231] Chr19:7453700 [GRCh38]
Chr19:7518586 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1835G>A (p.Arg612His) single nucleotide variant not provided [RCV001316744] Chr19:7451246 [GRCh38]
Chr19:7516132 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3255C>T (p.Gly1085=) single nucleotide variant not provided [RCV001348944] Chr19:7467459 [GRCh38]
Chr19:7532345 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1762C>T (p.Arg588Trp) single nucleotide variant not provided [RCV001348945] Chr19:7451173 [GRCh38]
Chr19:7516059 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2027G>A (p.Arg676His) single nucleotide variant not provided [RCV001296893] Chr19:7453638 [GRCh38]
Chr19:7518524 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3982G>A (p.Gly1328Arg) single nucleotide variant not provided [RCV001302925] Chr19:7470194 [GRCh38]
Chr19:7535080 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3298G>A (p.Glu1100Lys) single nucleotide variant not provided [RCV001340615] Chr19:7467502 [GRCh38]
Chr19:7532388 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1480T>C (p.Cys494Arg) single nucleotide variant not provided [RCV001296543] Chr19:7444323 [GRCh38]
Chr19:7509209 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1046T>G (p.Val349Gly) single nucleotide variant not provided [RCV001302253] Chr19:7440422 [GRCh38]
Chr19:7505308 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2452+6C>T single nucleotide variant not provided [RCV001296729] Chr19:7460000 [GRCh38]
Chr19:7524886 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1655T>C (p.Val552Ala) single nucleotide variant not provided [RCV001343668] Chr19:7447086 [GRCh38]
Chr19:7511972 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3179A>G (p.Gln1060Arg) single nucleotide variant not provided [RCV001341274] Chr19:7467383 [GRCh38]
Chr19:7532269 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1963A>G (p.Arg655Gly) single nucleotide variant not provided [RCV001319313] Chr19:7453574 [GRCh38]
Chr19:7518460 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1463T>C (p.Ile488Thr) single nucleotide variant not provided [RCV001341409] Chr19:7444306 [GRCh38]
Chr19:7509192 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2712A>G (p.Thr904=) single nucleotide variant not provided [RCV001422718] Chr19:7463894 [GRCh38]
Chr19:7528780 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3480+6_3480+8delinsTAT indel not provided [RCV001326503] Chr19:7467690..7467692 [GRCh38]
Chr19:7532576..7532578 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3257C>T (p.Ala1086Val) single nucleotide variant not provided [RCV001372258] Chr19:7467461 [GRCh38]
Chr19:7532347 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1310A>G (p.Tyr437Cys) single nucleotide variant not provided [RCV001373273] Chr19:7442002 [GRCh38]
Chr19:7506888 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.4020G>A (p.Ser1340=) single nucleotide variant not provided [RCV001412356] Chr19:7470232 [GRCh38]
Chr19:7535118 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1398C>G (p.Leu466=) single nucleotide variant not provided [RCV001414703] Chr19:7444241 [GRCh38]
Chr19:7509127 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2602G>T (p.Gly868Trp) single nucleotide variant not provided [RCV001295509] Chr19:7462301 [GRCh38]
Chr19:7527187 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-309C>T single nucleotide variant not provided [RCV001326700] Chr19:7440035 [GRCh38]
Chr19:7504921 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1219+14C>T single nucleotide variant not provided [RCV001397414] Chr19:7441779 [GRCh38]
Chr19:7506665 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3573C>T (p.Tyr1191=) single nucleotide variant not provided [RCV001397698] Chr19:7468917 [GRCh38]
Chr19:7533803 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1255T>C (p.Ser419Pro) single nucleotide variant not provided [RCV001314225] Chr19:7441947 [GRCh38]
Chr19:7506833 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1165G>A (p.Ala389Thr) single nucleotide variant not provided [RCV001372651] Chr19:7441711 [GRCh38]
Chr19:7506597 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2125A>G (p.Thr709Ala) single nucleotide variant not provided [RCV001363326] Chr19:7456347 [GRCh38]
Chr19:7521233 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2265C>T (p.Ser755=) single nucleotide variant not provided [RCV001391964] Chr19:7458595 [GRCh38]
Chr19:7523481 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3729C>G (p.Thr1243=) single nucleotide variant not provided [RCV001433066] Chr19:7469073 [GRCh38]
Chr19:7533959 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2113_2121del (p.Ala705_Leu707del) deletion not provided [RCV001370125] Chr19:7456328..7456336 [GRCh38]
Chr19:7521214..7521222 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3620A>T (p.Asn1207Ile) single nucleotide variant not provided [RCV001368881] Chr19:7468964 [GRCh38]
Chr19:7533850 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1220-10C>G single nucleotide variant not provided [RCV001396860] Chr19:7441902 [GRCh38]
Chr19:7506788 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2621C>T (p.Ser874Leu) single nucleotide variant not provided [RCV001348492] Chr19:7462320 [GRCh38]
Chr19:7527206 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1295C>T (p.Ala432Val) single nucleotide variant not provided [RCV001422671] Chr19:7441987 [GRCh38]
Chr19:7506873 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1856-5G>A single nucleotide variant not provided [RCV001360406] Chr19:7453462 [GRCh38]
Chr19:7518348 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-127A>G single nucleotide variant not provided [RCV001360472] Chr19:7440217 [GRCh38]
Chr19:7505103 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1850C>T (p.Thr617Met) single nucleotide variant not provided [RCV001371460] Chr19:7451261 [GRCh38]
Chr19:7516147 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2250G>A (p.Ala750=) single nucleotide variant not provided [RCV001415361] Chr19:7458580 [GRCh38]
Chr19:7523466 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2402A>G (p.Glu801Gly) single nucleotide variant not provided [RCV001371690] Chr19:7459944 [GRCh38]
Chr19:7524830 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3914-13C>G single nucleotide variant not provided [RCV001433510] Chr19:7470113 [GRCh38]
Chr19:7534999 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2440C>T (p.Arg814Trp) single nucleotide variant not provided [RCV001345632] Chr19:7459982 [GRCh38]
Chr19:7524868 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2452+5G>T single nucleotide variant not provided [RCV001315486] Chr19:7459999 [GRCh38]
Chr19:7524885 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2181+4T>A single nucleotide variant not provided [RCV001364976] Chr19:7456407 [GRCh38]
Chr19:7521293 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-265G>C single nucleotide variant not provided [RCV001315706] Chr19:7440079 [GRCh38]
Chr19:7504965 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1225T>G (p.Tyr409Asp) single nucleotide variant not provided [RCV001342261] Chr19:7441917 [GRCh38]
Chr19:7506803 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3803AGC[5] (p.Gln1269_Gln1270dup) microsatellite not provided [RCV001323157] Chr19:7469918..7469919 [GRCh38]
Chr19:7534804..7534805 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1763G>A (p.Arg588Gln) single nucleotide variant not provided [RCV001373955] Chr19:7451174 [GRCh38]
Chr19:7516060 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1363C>G (p.Leu455Val) single nucleotide variant not provided [RCV001342479] Chr19:7444206 [GRCh38]
Chr19:7509092 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2277A>G (p.Gln759=) single nucleotide variant not provided [RCV001368739] Chr19:7458607 [GRCh38]
Chr19:7523493 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2497G>A (p.Glu833Lys) single nucleotide variant not provided [RCV001346181] Chr19:7462196 [GRCh38]
Chr19:7527082 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3732G>A (p.Lys1244=) single nucleotide variant not provided [RCV001361580] Chr19:7469076 [GRCh38]
Chr19:7533962 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2790G>T (p.Lys930Asn) single nucleotide variant not provided [RCV001319160] Chr19:7464576 [GRCh38]
Chr19:7529462 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2148A>T (p.Gln716His) single nucleotide variant not provided [RCV001344217] Chr19:7456370 [GRCh38]
Chr19:7521256 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-134_968-132del microsatellite not provided [RCV001323359] Chr19:7440206..7440208 [GRCh38]
Chr19:7505092..7505094 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3637G>A (p.Asp1213Asn) single nucleotide variant not provided [RCV001338251] Chr19:7468981 [GRCh38]
Chr19:7533867 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2677G>A (p.Ala893Thr) single nucleotide variant not provided [RCV001298383] Chr19:7463859 [GRCh38]
Chr19:7528745 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1652G>A (p.Gly551Asp) single nucleotide variant not provided [RCV001320944] Chr19:7447083 [GRCh38]
Chr19:7511969 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-40C>T single nucleotide variant not provided [RCV001344335] Chr19:7440304 [GRCh38]
Chr19:7505190 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3507C>G (p.Ser1169Arg) single nucleotide variant not provided [RCV001298602] Chr19:7468851 [GRCh38]
Chr19:7533737 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2717C>T (p.Pro906Leu) single nucleotide variant not provided [RCV001323506] Chr19:7463899 [GRCh38]
Chr19:7528785 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2836C>T (p.Pro946Ser) single nucleotide variant not provided [RCV001317240] Chr19:7464622 [GRCh38]
Chr19:7529508 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2572C>T (p.Arg858Cys) single nucleotide variant not provided [RCV001362188] Chr19:7462271 [GRCh38]
Chr19:7527157 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3749G>A (p.Gly1250Asp) single nucleotide variant not provided [RCV001309199] Chr19:7469093 [GRCh38]
Chr19:7533979 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3854G>A (p.Arg1285Gln) single nucleotide variant not provided [RCV001341646] Chr19:7469970 [GRCh38]
Chr19:7534856 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3786A>G (p.Ser1262=) single nucleotide variant not provided [RCV001373274] Chr19:7469130 [GRCh38]
Chr19:7534016 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3777G>T (p.Trp1259Cys) single nucleotide variant not provided [RCV001318293] Chr19:7469121 [GRCh38]
Chr19:7534007 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3735_3749del (p.Asp1248_Lys1252del) deletion not provided [RCV001344568] Chr19:7469073..7469087 [GRCh38]
Chr19:7533959..7533973 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1774G>A (p.Val592Met) single nucleotide variant not provided [RCV001362537] Chr19:7451185 [GRCh38]
Chr19:7516071 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.4057G>A (p.Ala1353Thr) single nucleotide variant not provided [RCV001363898] Chr19:7470269 [GRCh38]
Chr19:7535155 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1107-8G>T single nucleotide variant not provided [RCV001395587] Chr19:7441645 [GRCh38]
Chr19:7506531 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2026C>T (p.Arg676Cys) single nucleotide variant not provided [RCV001313829] Chr19:7453637 [GRCh38]
Chr19:7518523 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3455C>T (p.Ala1152Val) single nucleotide variant not provided [RCV001370718] Chr19:7467659 [GRCh38]
Chr19:7532545 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3751G>A (p.Gly1251Ser) single nucleotide variant not provided [RCV001359858] Chr19:7469095 [GRCh38]
Chr19:7533981 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1632G>T (p.Glu544Asp) single nucleotide variant not provided [RCV001314110] Chr19:7447063 [GRCh38]
Chr19:7511949 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2846C>T (p.Pro949Leu) single nucleotide variant not provided [RCV001306488] Chr19:7464632 [GRCh38]
Chr19:7529518 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2194C>T (p.Pro732Ser) single nucleotide variant not provided [RCV001296173] Chr19:7458524 [GRCh38]
Chr19:7523410 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3863G>A (p.Arg1288His) single nucleotide variant not provided [RCV001371435] Chr19:7469979 [GRCh38]
Chr19:7534865 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3536_3537delinsAG (p.Arg1179Gln) indel not provided [RCV001366786] Chr19:7468880..7468881 [GRCh38]
Chr19:7533766..7533767 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-271G>T single nucleotide variant not provided [RCV001366840] Chr19:7440073 [GRCh38]
Chr19:7504959 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1005C>T (p.Ser335=) single nucleotide variant not provided [RCV001413269] Chr19:7440381 [GRCh38]
Chr19:7505267 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2498A>G (p.Glu833Gly) single nucleotide variant not provided [RCV001309574] Chr19:7462197 [GRCh38]
Chr19:7527083 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2542G>C (p.Glu848Gln) single nucleotide variant not provided [RCV001297456] Chr19:7462241 [GRCh38]
Chr19:7527127 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3554C>A (p.Ser1185Tyr) single nucleotide variant not provided [RCV001367242] Chr19:7468898 [GRCh38]
Chr19:7533784 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3575C>T (p.Ala1192Val) single nucleotide variant not provided [RCV001365362] Chr19:7468919 [GRCh38]
Chr19:7533805 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.968-250G>A single nucleotide variant not provided [RCV001360683] Chr19:7440094 [GRCh38]
Chr19:7504980 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1250T>C (p.Ile417Thr) single nucleotide variant not provided [RCV001369809] Chr19:7441942 [GRCh38]
Chr19:7506828 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.2762G>A (p.Ser921Asn) single nucleotide variant not provided [RCV001361116] Chr19:7463944 [GRCh38]
Chr19:7528830 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1926C>T (p.Asp642=) single nucleotide variant not provided [RCV001412805] Chr19:7453537 [GRCh38]
Chr19:7518423 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2325C>T (p.Asn775=) single nucleotide variant not provided [RCV001412840] Chr19:7458655 [GRCh38]
Chr19:7523541 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3902C>T (p.Ala1301Val) single nucleotide variant not provided [RCV001304409] Chr19:7470018 [GRCh38]
Chr19:7534904 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.1769T>G (p.Leu590Arg) single nucleotide variant not provided [RCV001337499] Chr19:7451180 [GRCh38]
Chr19:7516066 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001367823.1(ARHGEF18):c.3585C>T (p.Pro1195=) single nucleotide variant not provided [RCV001495038] Chr19:7468929 [GRCh38]
Chr19:7533815 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1116A>G (p.Thr372=) single nucleotide variant not provided [RCV001461580] Chr19:7441662 [GRCh38]
Chr19:7506548 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2182-7C>T single nucleotide variant not provided [RCV001485413] Chr19:7458505 [GRCh38]
Chr19:7523391 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3480+6_3480+7delinsTA indel not provided [RCV001519433] Chr19:7467690..7467691 [GRCh38]
Chr19:7532576..7532577 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3447G>A (p.Ala1149=) single nucleotide variant not provided [RCV001504693] Chr19:7467651 [GRCh38]
Chr19:7532537 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.4002C>T (p.Pro1334=) single nucleotide variant not provided [RCV001451370] Chr19:7470214 [GRCh38]
Chr19:7535100 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3145C>T (p.Gln1049Ter) single nucleotide variant not provided [RCV001389895] Chr19:7467349 [GRCh38]
Chr19:7532235 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.2718G>A (p.Pro906=) single nucleotide variant not provided [RCV001475332] Chr19:7463900 [GRCh38]
Chr19:7528786 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3690C>T (p.Ala1230=) single nucleotide variant not provided [RCV001455387] Chr19:7469034 [GRCh38]
Chr19:7533920 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2773+9G>A single nucleotide variant not provided [RCV001504989] Chr19:7463964 [GRCh38]
Chr19:7528850 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2514C>T (p.Tyr838=) single nucleotide variant not provided [RCV001483157] Chr19:7462213 [GRCh38]
Chr19:7527099 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-50C>T single nucleotide variant not provided [RCV001451841] Chr19:7440294 [GRCh38]
Chr19:7505180 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-38C>T single nucleotide variant not provided [RCV001452231] Chr19:7440306 [GRCh38]
Chr19:7505192 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1353C>T (p.Val451=) single nucleotide variant not provided [RCV001480298] Chr19:7442045 [GRCh38]
Chr19:7506931 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.4056C>T (p.Asp1352=) single nucleotide variant not provided [RCV001486465] Chr19:7470268 [GRCh38]
Chr19:7535154 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-11C>T single nucleotide variant not provided [RCV001469275] Chr19:7440333 [GRCh38]
Chr19:7505219 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3942G>A (p.Pro1314=) single nucleotide variant not provided [RCV001403293] Chr19:7470154 [GRCh38]
Chr19:7535040 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2739C>T (p.Phe913=) single nucleotide variant not provided [RCV001423237] Chr19:7463921 [GRCh38]
Chr19:7528807 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2957C>T (p.Ser986Leu) single nucleotide variant not provided [RCV001512702] Chr19:7466970 [GRCh38]
Chr19:7531856 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2013C>T (p.Asn671=) single nucleotide variant not provided [RCV001487104] Chr19:7453624 [GRCh38]
Chr19:7518510 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3009+7G>C single nucleotide variant not provided [RCV001513316] Chr19:7467125 [GRCh38]
Chr19:7532011 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3327G>T (p.Leu1109=) single nucleotide variant not provided [RCV001478337] Chr19:7467531 [GRCh38]
Chr19:7532417 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.996C>T (p.Thr332=) single nucleotide variant not provided [RCV001489940] Chr19:7440372 [GRCh38]
Chr19:7505258 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3264G>A (p.Leu1088=) single nucleotide variant not provided [RCV001457125] Chr19:7467468 [GRCh38]
Chr19:7532354 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3339C>T (p.Arg1113=) single nucleotide variant not provided [RCV001492044] Chr19:7467543 [GRCh38]
Chr19:7532429 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-98T>G single nucleotide variant not provided [RCV001398857] Chr19:7440246 [GRCh38]
Chr19:7505132 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3909A>G (p.Pro1303=) single nucleotide variant not provided [RCV001439324] Chr19:7470025 [GRCh38]
Chr19:7534911 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1200C>T (p.Thr400=) single nucleotide variant not provided [RCV001403081] Chr19:7441746 [GRCh38]
Chr19:7506632 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3009+10C>T single nucleotide variant not provided [RCV001411944] Chr19:7467128 [GRCh38]
Chr19:7532014 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1612-10T>C single nucleotide variant not provided [RCV001446435] Chr19:7447033 [GRCh38]
Chr19:7511919 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1728C>T (p.Asn576=) single nucleotide variant not provided [RCV001428871] Chr19:7447159 [GRCh38]
Chr19:7512045 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2055C>T (p.Leu685=) single nucleotide variant not provided [RCV001407630] Chr19:7453666 [GRCh38]
Chr19:7518552 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2773+6A>G single nucleotide variant not provided [RCV001446885] Chr19:7463961 [GRCh38]
Chr19:7528847 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3480+8dup duplication not provided [RCV001446831] Chr19:7467691..7467692 [GRCh38]
Chr19:7532577..7532578 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2304G>A (p.Thr768=) single nucleotide variant not provided [RCV001449475] Chr19:7458634 [GRCh38]
Chr19:7523520 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-350T>C single nucleotide variant not provided [RCV001439303] Chr19:7439994 [GRCh38]
Chr19:7504880 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3787+10C>G single nucleotide variant not provided [RCV001441924] Chr19:7469141 [GRCh38]
Chr19:7534027 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2847G>A (p.Pro949=) single nucleotide variant not provided [RCV001393315] Chr19:7464633 [GRCh38]
Chr19:7529519 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.4072G>A (p.Val1358Ile) single nucleotide variant not provided [RCV001444458] Chr19:7470284 [GRCh38]
Chr19:7535170 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3481-13G>T single nucleotide variant not provided [RCV001444734] Chr19:7468812 [GRCh38]
Chr19:7533698 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2121G>C (p.Leu707=) single nucleotide variant not provided [RCV001393535] Chr19:7456343 [GRCh38]
Chr19:7521229 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-300_968-290del deletion not provided [RCV001380672] Chr19:7440041..7440051 [GRCh38]
Chr19:7504927..7504937 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.2370C>T (p.Asp790=) single nucleotide variant not provided [RCV001408428] Chr19:7459912 [GRCh38]
Chr19:7524798 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2394G>A (p.Leu798=) single nucleotide variant not provided [RCV001447641] Chr19:7459936 [GRCh38]
Chr19:7524822 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3936C>T (p.Ser1312=) single nucleotide variant not provided [RCV001398652] Chr19:7470148 [GRCh38]
Chr19:7535034 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3750C>T (p.Gly1250=) single nucleotide variant not provided [RCV001440595] Chr19:7469094 [GRCh38]
Chr19:7533980 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2994G>A (p.Leu998=) single nucleotide variant not provided [RCV001431735] Chr19:7467103 [GRCh38]
Chr19:7531989 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-377del deletion not provided [RCV001390974] Chr19:7439967 [GRCh38]
Chr19:7504853 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001367823.1(ARHGEF18):c.1932G>A (p.Lys644=) single nucleotide variant not provided [RCV001401773] Chr19:7453543 [GRCh38]
Chr19:7518429 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-104C>A single nucleotide variant not provided [RCV001419639] Chr19:7440240 [GRCh38]
Chr19:7505126 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2313A>G (p.Lys771=) single nucleotide variant not provided [RCV001401785] Chr19:7458643 [GRCh38]
Chr19:7523529 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2622G>A (p.Ser874=) single nucleotide variant not provided [RCV001404161] Chr19:7462321 [GRCh38]
Chr19:7527207 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1758C>T (p.Ile586=) single nucleotide variant not provided [RCV001400502] Chr19:7451169 [GRCh38]
Chr19:7516055 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2250G>T (p.Ala750=) single nucleotide variant not provided [RCV001490082] Chr19:7458580 [GRCh38]
Chr19:7523466 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2127C>T (p.Thr709=) single nucleotide variant not provided [RCV001494915] Chr19:7456349 [GRCh38]
Chr19:7521235 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1311C>T (p.Tyr437=) single nucleotide variant not provided [RCV001486174] Chr19:7442003 [GRCh38]
Chr19:7506889 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2424C>G (p.Ala808=) single nucleotide variant not provided [RCV001499299] Chr19:7459966 [GRCh38]
Chr19:7524852 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3444C>G (p.Thr1148=) single nucleotide variant not provided [RCV001519364] Chr19:7467648 [GRCh38]
Chr19:7532534 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.4080C>T (p.Phe1360=) single nucleotide variant not provided [RCV001464946] Chr19:7470292 [GRCh38]
Chr19:7535178 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2535C>T (p.Gly845=) single nucleotide variant not provided [RCV001462038] Chr19:7462234 [GRCh38]
Chr19:7527120 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3481-10G>C single nucleotide variant not provided [RCV001461888] Chr19:7468815 [GRCh38]
Chr19:7533701 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2010G>A (p.Lys670=) single nucleotide variant not provided [RCV001506838] Chr19:7453621 [GRCh38]
Chr19:7518507 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3537T>G (p.Arg1179=) single nucleotide variant not provided [RCV001510148] Chr19:7468881 [GRCh38]
Chr19:7533767 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1737+8_1737+9del deletion not provided [RCV001483105] Chr19:7447175..7447176 [GRCh38]
Chr19:7512061..7512062 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3787+8G>A single nucleotide variant not provided [RCV001458989] Chr19:7469139 [GRCh38]
Chr19:7534025 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3480+5_3480+7delinsATA indel not provided [RCV001511249] Chr19:7467689..7467691 [GRCh38]
Chr19:7532575..7532577 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1219+17T>G single nucleotide variant not provided [RCV001511850] Chr19:7441782 [GRCh38]
Chr19:7506668 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3933G>A (p.Pro1311=) single nucleotide variant not provided [RCV001500758] Chr19:7470145 [GRCh38]
Chr19:7535031 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2676C>T (p.Ser892=) single nucleotide variant not provided [RCV001466681] Chr19:7463858 [GRCh38]
Chr19:7528744 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1257A>T (p.Ser419=) single nucleotide variant not provided [RCV001470859] Chr19:7441949 [GRCh38]
Chr19:7506835 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2561G>C (p.Arg854Pro) single nucleotide variant not provided [RCV001518048] Chr19:7462260 [GRCh38]
Chr19:7527146 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1219+15G>A single nucleotide variant not provided [RCV001513213] Chr19:7441780 [GRCh38]
Chr19:7506666 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.968-125C>T single nucleotide variant not provided [RCV001463958] Chr19:7440219 [GRCh38]
Chr19:7505105 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2283G>A (p.Pro761=) single nucleotide variant not provided [RCV001478016] Chr19:7458613 [GRCh38]
Chr19:7523499 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2613T>A (p.Ile871=) single nucleotide variant not provided [RCV001471297] Chr19:7462312 [GRCh38]
Chr19:7527198 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1738-4C>G single nucleotide variant not provided [RCV001471368] Chr19:7451145 [GRCh38]
Chr19:7516031 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1596C>T (p.Asp532=) single nucleotide variant not provided [RCV001504854] Chr19:7444439 [GRCh38]
Chr19:7509325 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2961+13G>A single nucleotide variant not provided [RCV001523317] Chr19:7466987 [GRCh38]
Chr19:7531873 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1494G>C (p.Leu498=) single nucleotide variant not provided [RCV001481094] Chr19:7444337 [GRCh38]
Chr19:7509223 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3513C>T (p.Asn1171=) single nucleotide variant not provided [RCV001489917] Chr19:7468857 [GRCh38]
Chr19:7533743 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1773C>T (p.Gly591=) single nucleotide variant not provided [RCV001518427] Chr19:7451184 [GRCh38]
Chr19:7516070 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3480+6C>T single nucleotide variant not provided [RCV001518428] Chr19:7467690 [GRCh38]
Chr19:7532576 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1612-5A>T single nucleotide variant not provided [RCV001435707] Chr19:7447038 [GRCh38]
Chr19:7511924 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2361-7C>T single nucleotide variant not provided [RCV001405718] Chr19:7459896 [GRCh38]
Chr19:7524782 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2499G>A (p.Glu833=) single nucleotide variant not provided [RCV001495767] Chr19:7462198 [GRCh38]
Chr19:7527084 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2452+15G>A single nucleotide variant not provided [RCV001512716] Chr19:7460009 [GRCh38]
Chr19:7524895 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2544A>G (p.Glu848=) single nucleotide variant not provided [RCV001460164] Chr19:7462243 [GRCh38]
Chr19:7527129 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3168G>C (p.Leu1056=) single nucleotide variant not provided [RCV001467129] Chr19:7467372 [GRCh38]
Chr19:7532258 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2361-18C>T single nucleotide variant not provided [RCV001516470] Chr19:7459885 [GRCh38]
Chr19:7524771 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2773+11G>A single nucleotide variant not provided [RCV001518772] Chr19:7463966 [GRCh38]
Chr19:7528852 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.968-131G>A single nucleotide variant not provided [RCV001519274] Chr19:7440213 [GRCh38]
Chr19:7505099 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2427C>T (p.Arg809=) single nucleotide variant not provided [RCV001519275] Chr19:7459969 [GRCh38]
Chr19:7524855 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2666A>G (p.Gln889Arg) single nucleotide variant not provided [RCV001519276] Chr19:7463848 [GRCh38]
Chr19:7528734 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3162G>C (p.Ala1054=) single nucleotide variant not provided [RCV001519277] Chr19:7467366 [GRCh38]
Chr19:7532252 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3620A>G (p.Asn1207Ser) single nucleotide variant not provided [RCV001519278] Chr19:7468964 [GRCh38]
Chr19:7533850 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2517G>A (p.Leu839=) single nucleotide variant not provided [RCV001468612] Chr19:7462216 [GRCh38]
Chr19:7527102 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3772C>A (p.Arg1258Ser) single nucleotide variant not provided [RCV001464786] Chr19:7469116 [GRCh38]
Chr19:7534002 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-248C>T single nucleotide variant not provided [RCV001520714] Chr19:7440096 [GRCh38]
Chr19:7504982 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1360+20G>A single nucleotide variant not provided [RCV001519521] Chr19:7442072 [GRCh38]
Chr19:7506958 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1074A>G (p.Thr358=) single nucleotide variant not provided [RCV001482209] Chr19:7440450 [GRCh38]
Chr19:7505336 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2205G>A (p.Ser735=) single nucleotide variant not provided [RCV001488761] Chr19:7458535 [GRCh38]
Chr19:7523421 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3118C>A (p.Gln1040Lys) single nucleotide variant not provided [RCV001510645] Chr19:7467322 [GRCh38]
Chr19:7532208 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3789G>A (p.Ala1263=) single nucleotide variant not provided [RCV001419605] Chr19:7469905 [GRCh38]
Chr19:7534791 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-80G>A single nucleotide variant not provided [RCV001499113] Chr19:7440264 [GRCh38]
Chr19:7505150 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1224C>T (p.Pro408=) single nucleotide variant not provided [RCV001432132] Chr19:7441916 [GRCh38]
Chr19:7506802 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2418C>T (p.Val806=) single nucleotide variant not provided [RCV001510825] Chr19:7459960 [GRCh38]
Chr19:7524846 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.1650C>T (p.Tyr550=) single nucleotide variant not provided [RCV001521412] Chr19:7447081 [GRCh38]
Chr19:7511967 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2749G>A (p.Asp917Asn) single nucleotide variant not provided [RCV001483356] Chr19:7463931 [GRCh38]
Chr19:7528817 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1338G>A (p.Val446=) single nucleotide variant not provided [RCV001499464] Chr19:7442030 [GRCh38]
Chr19:7506916 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2748C>T (p.Tyr916=) single nucleotide variant not provided [RCV001404182] Chr19:7463930 [GRCh38]
Chr19:7528816 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2905-10C>A single nucleotide variant not provided [RCV001404442] Chr19:7466908 [GRCh38]
Chr19:7531794 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3885C>T (p.Pro1295=) single nucleotide variant not provided [RCV001432565] Chr19:7470001 [GRCh38]
Chr19:7534887 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.3913+10C>G single nucleotide variant not provided [RCV001418120] Chr19:7470039 [GRCh38]
Chr19:7534925 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2433G>A (p.Thr811=) single nucleotide variant not provided [RCV001400875] Chr19:7459975 [GRCh38]
Chr19:7524861 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1737+11T>A single nucleotide variant not provided [RCV001515603] Chr19:7447179 [GRCh38]
Chr19:7512065 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.2844C>T (p.Ser948=) single nucleotide variant not provided [RCV001517880] Chr19:7464630 [GRCh38]
Chr19:7529516 [GRCh37]
Chr19:19p13.2
benign
NM_001367823.1(ARHGEF18):c.3975C>G (p.Leu1325=) single nucleotide variant not provided [RCV001428059] Chr19:7470187 [GRCh38]
Chr19:7535073 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.968-233T>C single nucleotide variant not provided [RCV001430743] Chr19:7440111 [GRCh38]
Chr19:7504997 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2172T>C (p.Phe724=) single nucleotide variant not provided [RCV001484043] Chr19:7456394 [GRCh38]
Chr19:7521280 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.1449C>T (p.Phe483=) single nucleotide variant not provided [RCV001405377] Chr19:7444292 [GRCh38]
Chr19:7509178 [GRCh37]
Chr19:19p13.2
likely benign
NM_001367823.1(ARHGEF18):c.2458T>C (p.Leu820=) single nucleotide variant not provided [RCV001505911] Chr19:7462157 [GRCh38]
Chr19:7527043 [GRCh37]
Chr19:19p13.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17090 AgrOrtholog
COSMIC ARHGEF18 COSMIC
Ensembl Genes ENSG00000104880 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000268861 Ensembl, UniProtKB/TrEMBL
Ensembl Protein ENSP00000352995 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000470729 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000482647 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000499655 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000500339 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359920 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000594665 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000617428 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000668164 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000671891 UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104880 GTEx
  ENSG00000268861 GTEx
HGNC ID HGNC:17090 ENTREZGENE
Human Proteome Map ARHGEF18 Human Proteome Map
InterPro ARHGEF18_PH 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_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23370 ENTREZGENE
OMIM 616432 OMIM
  617433 OMIM
Pfam PH_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394630 PharmGKB
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZG4_HUMAN UniProtKB/TrEMBL
  A0A2X0SSI0_HUMAN UniProtKB/TrEMBL
  A0A3B3IPE9_HUMAN UniProtKB/TrEMBL
  A0A590UK10_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHI8_HUMAN UniProtKB/TrEMBL
  ARHGI_HUMAN UniProtKB/Swiss-Prot
  M0QZS0_HUMAN UniProtKB/TrEMBL
  Q6ZSZ5 ENTREZGENE
UniProt Secondary A8MV62 UniProtKB/Swiss-Prot
  B5ME81 UniProtKB/Swiss-Prot
  I3L1I5 UniProtKB/Swiss-Prot
  O60274 UniProtKB/Swiss-Prot
  Q6DD92 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ARHGEF18  Rho/Rac guanine nucleotide exchange factor 18  ARHGEF18  Rho/Rac guanine nucleotide exchange factor (GEF) 18  Symbol and/or name change 5135510 APPROVED