NIT1 nitrilase 1

Information
Symbol
NIT1
Type
protein-coding
Description
nitrilase 1
Entrez Gene ID
4817
Genome
hg19
Position
chr1:161,087,895-161,090,984
Genome
hg38
Position
chr1:161,118,105-161,121,194
MIM
604618 OMIM
HGNC
HGNC:7828 HGNC
Ensembl
ENSG00000158793 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 48
Ranking
ClinVar
0
0
0
48
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
MIM 604618 OMIM
HGNC HGNC:7828 HGNC
Ensembl ENSG00000158793 Ensembl
AllianceGenome HGNC:7828
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368008.5 hg38 chr1 161,118,118 161,125,445 7,328
ENST00000368009.7 hg38 chr1 161,118,105 161,121,194 3,090
ENST00000368007.8 hg38 chr1 161,118,117 161,121,193 3,077
ENST00000392190.9 hg38 chr1 161,118,118 161,121,193 3,076
ENST00000368009.7 hg19 chr1 161,087,895 161,090,984 3,090
ENST00000368007.8 hg19 chr1 161,087,907 161,090,983 3,077
ENST00000392190.9 hg19 chr1 161,087,908 161,090,983 3,076
ENST00000368008.5 hg19 chr1 161,087,908 161,095,235 7,328
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