NR0B1 nuclear receptor subfamily 0 group B member 1

Information
Symbol
NR0B1
Type
protein-coding
Description
nuclear receptor subfamily 0 group B member 1
Entrez Gene ID
190
Genome
hg19
Position
chrX:30,322,323-30,327,507
Genome
hg38
Position
chrX:30,304,206-30,309,390
MIM
300473 OMIM
HGNC
HGNC:7960 HGNC
Ensembl
ENSG00000169297 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 42 186
Likely pathogenic 1 34
Benign 0 68
Likely benign 0 288
Conflicting classifications of pathogenicity 0 14
not provided 6 0
Uncertain significance 0 100
Ranking
ClinVar
0
0
50
546
60
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 AHC
SYNONYM AHCH
SYNONYM AHX
SYNONYM DAX-1
SYNONYM DAX1
SYNONYM DSS
SYNONYM GTD
SYNONYM HHG
SYNONYM NROB1
SYNONYM SRXY2
MIM 300473 OMIM
HGNC HGNC:7960 HGNC
Ensembl ENSG00000169297 Ensembl
AllianceGenome HGNC:7960
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378970.5 hg38 chrX 30,304,206 30,309,390 5,185
ENST00000378963.1 hg38 chrX 30,305,674 30,308,488 2,815
ENST00000378970.5 hg19 chrX 30,322,323 30,327,507 5,185
ENST00000378963.1 hg19 chrX 30,323,791 30,326,605 2,815
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