NR1D1 nuclear receptor subfamily 1 group D member 1

Information
Symbol
NR1D1
Type
protein-coding
Description
nuclear receptor subfamily 1 group D member 1
Entrez Gene ID
9572
Genome
hg19
Position
chr17:38,249,046-38,256,842
Genome
hg38
Position
chr17:40,092,793-40,100,589
MIM
602408 OMIM
HGNC
HGNC:7962 HGNC
Ensembl
ENSG00000126368 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 4
Likely benign 0 4
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
72
2
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
SYNONYM EAR1
SYNONYM REVERBA
SYNONYM REVERBalpha
SYNONYM THRA1
SYNONYM THRAL
SYNONYM ear-1
SYNONYM hRev
MIM 602408 OMIM
HGNC HGNC:7962 HGNC
Ensembl ENSG00000126368 Ensembl
AllianceGenome HGNC:7962
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000246672.4 hg38 chr17 40,092,793 40,100,589 7,797
ENST00000246672.4 hg19 chr17 38,249,046 38,256,842 7,797
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