CHRND cholinergic receptor nicotinic delta subunit

Information
Symbol
CHRND
Type
protein-coding
Description
cholinergic receptor nicotinic delta subunit
Entrez Gene ID
1144
Genome
hg19
Position
chr2:233,390,870-233,401,374
Genome
hg38
Position
chr2:232,526,160-232,536,664
MIM
100720 OMIM
HGNC
HGNC:1965 HGNC
Ensembl
ENSG00000135902 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 44
Likely pathogenic 0 30
Benign 0 60
Likely benign 0 308
Conflicting classifications of pathogenicity 0 92
Uncertain significance 0 530
Ranking
ClinVar
0
0
148
782
16
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 :
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 ACHRD
SYNONYM CMS2A
SYNONYM CMS3A
SYNONYM CMS3B
SYNONYM CMS3C
SYNONYM FCCMS
SYNONYM SCCMS
MIM 100720 OMIM
HGNC HGNC:1965 HGNC
Ensembl ENSG00000135902 Ensembl
AllianceGenome HGNC:1965
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000543200.5 hg38 chr2 232,526,160 232,536,665 10,506
ENST00000258385.8 hg38 chr2 232,526,160 232,536,664 10,505
ENST00000258385.8 hg19 chr2 233,390,870 233,401,374 10,505
ENST00000543200.5 hg19 chr2 233,390,870 233,401,375 10,506
Genome browser