ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18

Information
Symbol
ARHGEF18
Type
protein-coding
Description
Rho/Rac guanine nucleotide exchange factor 18
Entrez Gene ID
23370
Genome
hg19
Position
chr19:7,413,842-7,537,364
Genome
hg38
Position
chr19:7,348,937-7,472,478
MIM
616432 OMIM
HGNC
HGNC:17090 HGNC
Ensembl
ENSG00000104880 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 6
Benign 0 122
Likely benign 0 818
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 876
Ranking
ClinVar
0
0
138
1,704
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM P114-RhoGEF
SYNONYM RP78
SYNONYM SA-RhoGEF
SYNONYM p114RhoGEF
MIM 616432 OMIM
HGNC HGNC:17090 HGNC
Ensembl ENSG00000104880 Ensembl
AllianceGenome HGNC:17090
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000594665.2 hg38 chr19 7,395,168 7,472,467 77,300
ENST00000617428.4 hg38 chr19 7,395,186 7,472,476 77,291
ENST00000668164.2 hg38 chr19 7,348,937 7,472,478 123,542
ENST00000319670.14 hg38 chr19 7,395,155 7,472,485 77,331
ENST00000359920.11 hg38 chr19 7,439,688 7,472,477 32,790
ENST00000668164.2 hg19 chr19 7,413,842 7,537,364 123,523
ENST00000319670.14 hg19 chr19 7,460,041 7,537,371 77,331
ENST00000594665.2 hg19 chr19 7,460,054 7,537,353 77,300
ENST00000617428.4 hg19 chr19 7,460,072 7,537,362 77,291
ENST00000359920.11 hg19 chr19 7,504,574 7,537,363 32,790
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