CHRNB4 cholinergic receptor nicotinic beta 4 subunit

Information
Symbol
CHRNB4
Type
protein-coding
Description
cholinergic receptor nicotinic beta 4 subunit
Entrez Gene ID
1143
Genome
hg19
Position
chr15:78,916,453-78,933,552
Genome
hg38
Position
chr15:78,624,111-78,641,210
MIM
118509 OMIM
HGNC
HGNC:1964 HGNC
Ensembl
ENSG00000117971 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Benign 0 16
Likely benign 0 8
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
70
4
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
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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
MIM 118509 OMIM
HGNC HGNC:1964 HGNC
Ensembl ENSG00000117971 Ensembl
AllianceGenome HGNC:1964
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000412074.6 hg38 chr15 78,624,408 78,641,245 16,838
ENST00000261751.8 hg38 chr15 78,624,111 78,641,210 17,100
ENST00000261751.8 hg19 chr15 78,916,453 78,933,552 17,100
ENST00000412074.6 hg19 chr15 78,916,750 78,933,587 16,838
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