HR HR lysine demethylase and nuclear receptor corepressor

Information
Symbol
HR
Type
protein-coding
Description
HR lysine demethylase and nuclear receptor corepressor
Entrez Gene ID
55806
Genome
hg19
Position
chr8:21,971,932-21,990,897
Genome
hg38
Position
chr8:22,114,419-22,133,384
MIM
602302 OMIM
HGNC
HGNC:5172 HGNC
Ensembl
ENSG00000168453 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 42
Likely pathogenic 0 8
Benign 0 158
Likely benign 0 96
Conflicting classifications of pathogenicity 0 30
no classification for the single variant 0 2
Uncertain significance 0 392
Ranking
ClinVar
0
0
134
516
20
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 ALUNC
SYNONYM AU
SYNONYM HSA277165
SYNONYM HYPT4
SYNONYM MUHH
SYNONYM MUHH1
MIM 602302 OMIM
HGNC HGNC:5172 HGNC
Ensembl ENSG00000168453 Ensembl
AllianceGenome HGNC:5172
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000312841.9 hg38 chr8 22,114,419 22,131,052 16,634
ENST00000680789.1 hg38 chr8 22,114,419 22,133,384 18,966
ENST00000381418.9 hg38 chr8 22,114,419 22,131,010 16,592
ENST00000381418.9 hg19 chr8 21,971,932 21,988,523 16,592
ENST00000312841.9 hg19 chr8 21,971,932 21,988,565 16,634
ENST00000680789.1 hg19 chr8 21,971,932 21,990,897 18,966
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