ARHGEF1 Rho guanine nucleotide exchange factor 1

Information
Symbol
ARHGEF1
Type
protein-coding
Description
Rho guanine nucleotide exchange factor 1
Entrez Gene ID
9138
Genome
hg19
Position
chr19:42,387,251-42,411,599
Genome
hg38
Position
chr19:41,883,184-41,907,447
MIM
601855 OMIM
HGNC
HGNC:681 HGNC
Ensembl
ENSG00000076928 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 62
Likely benign 0 638
Conflicting classifications of pathogenicity 0 6
not provided 3 0
Uncertain significance 0 640
Ranking
ClinVar
0
0
122
1,202
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 GEF1
SYNONYM IMD62
SYNONYM LBCL2
SYNONYM LSC
SYNONYM P115-RHOGEF
SYNONYM SUB1.5
MIM 601855 OMIM
HGNC HGNC:681 HGNC
Ensembl ENSG00000076928 Ensembl
AllianceGenome HGNC:681
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000599846.6 hg38 chr19 41,883,184 41,907,447 24,264
ENST00000706938.1 hg38 chr19 41,883,237 41,907,443 24,207
ENST00000378152.8 hg38 chr19 41,884,370 41,907,454 23,085
ENST00000347545.8 hg38 chr19 41,883,225 41,907,454 24,230
ENST00000354532.8 hg38 chr19 41,883,184 41,907,452 24,269
ENST00000698932.1 hg38 chr19 41,883,200 41,930,073 46,874
ENST00000337665.8 hg38 chr19 41,884,448 41,907,454 23,007
ENST00000354532.8 hg19 chr19 42,387,251 42,411,604 24,354
ENST00000347545.8 hg19 chr19 42,387,292 42,411,606 24,315
ENST00000378152.8 hg19 chr19 42,388,437 42,411,606 23,170
ENST00000337665.8 hg19 chr19 42,388,515 42,411,606 23,092
ENST00000599846.6 hg19 chr19 42,387,251 42,411,599 24,349
ENST00000698932.1 hg19 chr19 42,387,267 42,434,225 46,959
ENST00000706938.1 hg19 chr19 42,387,304 42,411,595 24,292
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