EQTN equatorin

Information
Symbol
EQTN
Type
protein-coding
Description
equatorin
Entrez Gene ID
54586
Genome
hg19
Position
chr9:27,284,652-27,297,148
Genome
hg38
Position
chr9:27,284,654-27,297,150
MIM
617653 OMIM
HGNC
HGNC:1359 HGNC
Ensembl
ENSG00000120160 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
40
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 :
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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 AFAF
SYNONYM C9orf11
SYNONYM SPACA8
MIM 617653 OMIM
HGNC HGNC:1359 HGNC
Ensembl ENSG00000120160 Ensembl
AllianceGenome HGNC:1359
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000537675.5 hg38 chr9 27,284,723 27,297,136 12,414
ENST00000380031.2 hg38 chr9 27,292,133 27,297,136 5,004
ENST00000380032.8 hg38 chr9 27,284,654 27,297,150 12,497
ENST00000380032.8 hg19 chr9 27,284,652 27,297,148 12,497
ENST00000537675.5 hg19 chr9 27,284,721 27,297,134 12,414
ENST00000380031.2 hg19 chr9 27,292,131 27,297,134 5,004
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