NIF3L1 NGG1 interacting factor 3 like 1

Information
Symbol
NIF3L1
Type
protein-coding
Description
NGG1 interacting factor 3 like 1
Entrez Gene ID
60491
Genome
hg19
Position
chr2:201,754,092-201,768,661
Genome
hg38
Position
chr2:200,889,369-200,903,938
MIM
605778 OMIM
HGNC
HGNC:13390 HGNC
Ensembl
ENSG00000196290 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
54
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 ALS2CR1
SYNONYM CALS-7
SYNONYM MDS015
MIM 605778 OMIM
HGNC HGNC:13390 HGNC
Ensembl ENSG00000196290 Ensembl
AllianceGenome HGNC:13390
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000651500.1 hg38 chr2 200,889,369 200,903,938 14,570
ENST00000409357.5 hg38 chr2 200,889,415 200,903,896 14,482
ENST00000409020.6 hg38 chr2 200,889,371 200,903,925 14,555
ENST00000409588.1 hg38 chr2 200,891,917 200,903,925 12,009
ENST00000359683.8 hg38 chr2 200,889,388 200,903,930 14,543
ENST00000651500.1 hg19 chr2 201,754,092 201,768,661 14,570
ENST00000409020.6 hg19 chr2 201,754,094 201,768,648 14,555
ENST00000359683.8 hg19 chr2 201,754,111 201,768,653 14,543
ENST00000409357.5 hg19 chr2 201,754,138 201,768,619 14,482
ENST00000409588.1 hg19 chr2 201,756,640 201,768,648 12,009
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