NICN1 nicolin 1, tubulin polyglutamylase complex subunit

Information
Symbol
NICN1
Type
protein-coding
Description
nicolin 1, tubulin polyglutamylase complex subunit
Entrez Gene ID
84276
Genome
hg19
Position
chr3:49,459,766-49,466,757
Genome
hg38
Position
chr3:49,422,333-49,429,324
MIM
611516 OMIM
HGNC
HGNC:18317 HGNC
Ensembl
ENSG00000145029 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 20
Likely pathogenic 0 16
Benign 0 6
Likely benign 0 42
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 72
Ranking
ClinVar
0
0
22
122
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
MIM 611516 OMIM
HGNC HGNC:18317 HGNC
Ensembl ENSG00000145029 Ensembl
AllianceGenome HGNC:18317
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000436744.2 hg38 chr3 49,424,177 49,429,326 5,150
ENST00000273598.8 hg38 chr3 49,422,333 49,429,324 6,992
ENST00000273598.8 hg19 chr3 49,459,766 49,466,757 6,992
ENST00000436744.2 hg19 chr3 49,461,610 49,466,759 5,150
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