GORAB golgin, RAB6 interacting

Information
Symbol
GORAB
Type
protein-coding
Description
golgin, RAB6 interacting
Entrez Gene ID
92344
Genome
hg19
Position
chr1:170,501,307-170,522,975
Genome
hg38
Position
chr1:170,532,166-170,553,834
MIM
607983 OMIM
HGNC
HGNC:25676 HGNC
Ensembl
ENSG00000120370 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 68
Likely pathogenic 0 14
Benign 0 52
Likely benign 0 310
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 272
Ranking
ClinVar
0
0
94
608
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
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 GO
SYNONYM NTKLBP1
SYNONYM SCYL1BP1
MIM 607983 OMIM
HGNC HGNC:25676 HGNC
Ensembl ENSG00000120370 Ensembl
AllianceGenome HGNC:25676
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367762.2 hg38 chr1 170,532,131 170,545,789 13,659
ENST00000367763.8 hg38 chr1 170,532,166 170,553,834 21,669
ENST00000688688.1 hg38 chr1 170,532,131 170,553,421 21,291
ENST00000367763.8 hg19 chr1 170,501,307 170,522,975 21,669
ENST00000367762.2 hg19 chr1 170,501,272 170,514,930 13,659
ENST00000688688.1 hg19 chr1 170,501,272 170,522,562 21,291
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