ABR ABR activator of RhoGEF and GTPase

Information
Symbol
ABR
Type
protein-coding
Description
ABR activator of RhoGEF and GTPase
Entrez Gene ID
29
Genome
hg19
Position
chr17:906,759-1,083,275
Genome
hg38
Position
chr17:1,003,519-1,179,981
MIM
600365 OMIM
HGNC
HGNC:81 HGNC
Ensembl
ENSG00000159842 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 8
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
78
0
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 :
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 MDB
MIM 600365 OMIM
HGNC HGNC:81 HGNC
Ensembl ENSG00000159842 Ensembl
AllianceGenome HGNC:81
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000536794.6 hg38 chr17 1,006,080 1,079,146 73,067
ENST00000544583.6 hg38 chr17 1,003,527 1,187,322 183,796
ENST00000291107.6 hg38 chr17 1,005,908 1,109,100 103,193
ENST00000572441.5 hg38 chr17 1,005,010 1,031,802 26,793
ENST00000543210.6 hg38 chr17 1,006,061 1,031,838 25,778
ENST00000574437.5 hg38 chr17 1,005,791 1,125,755 119,965
ENST00000302538.10 hg38 chr17 1,003,519 1,179,981 176,463
ENST00000302538.10 hg19 chr17 906,759 1,083,275 176,517
ENST00000536794.6 hg19 chr17 909,320 982,386 73,067
ENST00000544583.6 hg19 chr17 906,767 1,090,616 183,850
ENST00000572441.5 hg19 chr17 908,250 935,042 26,793
ENST00000574437.5 hg19 chr17 909,031 1,029,090 120,060
ENST00000291107.6 hg19 chr17 909,148 1,012,340 103,193
ENST00000543210.6 hg19 chr17 909,301 935,078 25,778
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