NEK8 NIMA related kinase 8

Information
Symbol
NEK8
Type
protein-coding
Description
NIMA related kinase 8
Entrez Gene ID
284086
Genome
hg19
Position
chr17:27,055,806-27,070,473
Genome
hg38
Position
chr17:28,728,788-28,743,455
MIM
609799 OMIM
HGNC
HGNC:13387 HGNC
Ensembl
ENSG00000160602 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 30
Likely pathogenic 0 20
Benign 0 38
Likely benign 0 194
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 318
Ranking
ClinVar
0
0
118
452
16
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 JCK
SYNONYM NEK12A
SYNONYM NPHP9
SYNONYM RHPD2
MIM 609799 OMIM
HGNC HGNC:13387 HGNC
Ensembl ENSG00000160602 Ensembl
AllianceGenome HGNC:13387
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000268766.11 hg38 chr17 28,728,788 28,743,455 14,668
ENST00000268766.11 hg19 chr17 27,055,806 27,070,473 14,668
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