NR2E1 nuclear receptor subfamily 2 group E member 1

Information
Symbol
NR2E1
Type
protein-coding
Description
nuclear receptor subfamily 2 group E member 1
Entrez Gene ID
7101
Genome
hg19
Position
chr6:108,489,227-108,510,006
Genome
hg38
Position
chr6:108,168,023-108,188,802
MIM
603849 OMIM
HGNC
HGNC:7973 HGNC
Ensembl
ENSG00000112333 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 2 2
Likely benign 0 8
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
34
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
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 TLL
SYNONYM TLX
SYNONYM XTLL
MIM 603849 OMIM
HGNC HGNC:7973 HGNC
Ensembl ENSG00000112333 Ensembl
AllianceGenome HGNC:7973
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368986.9 hg38 chr6 108,166,022 108,188,805 22,784
ENST00000368983.3 hg38 chr6 108,168,023 108,188,802 20,780
ENST00000368986.9 hg19 chr6 108,487,226 108,510,009 22,784
ENST00000368983.3 hg19 chr6 108,489,227 108,510,006 20,780
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