ESPL1 extra spindle pole bodies like 1, separase

Information
Symbol
ESPL1
Type
protein-coding
Description
extra spindle pole bodies like 1, separase
Entrez Gene ID
9700
Genome
hg19
Position
chr12:53,662,083-53,687,422
Genome
hg38
Position
chr12:53,268,299-53,293,638
MIM
604143 OMIM
HGNC
HGNC:16856 HGNC
Ensembl
ENSG00000135476 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 20
Likely benign 0 46
Uncertain significance 0 150
Ranking
ClinVar
0
0
8
206
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 :
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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 ESP1
SYNONYM SEPA
MIM 604143 OMIM
HGNC HGNC:16856 HGNC
Ensembl ENSG00000135476 Ensembl
AllianceGenome HGNC:16856
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000257934.9 hg38 chr12 53,268,299 53,293,638 25,340
ENST00000257934.9 hg19 chr12 53,662,083 53,687,422 25,340
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