CHRNB1 cholinergic receptor nicotinic beta 1 subunit
Information
- Symbol
- CHRNB1
- Type
- protein-coding
- Description
- cholinergic receptor nicotinic beta 1 subunit
- Entrez Gene ID
- 1140
- Genome
- hg19
- Position
- chr17:7,348,380-7,361,029
- Genome
- hg38
- Position
- chr17:7,445,061-7,457,710
- MIM
- 100710 OMIM
- HGNC
- HGNC:1961 HGNC
- Ensembl
- ENSG00000170175 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 22 |
| Likely pathogenic | 0 | 24 |
| Benign | 0 | 118 |
| Likely benign | 0 | 248 |
| Conflicting classifications of pathogenicity | 0 | 68 |
| Uncertain significance | 0 | 460 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
140 |
 |
704 |
 |
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
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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ACHRB |
| SYNONYM | CHRNB |
| SYNONYM | CMS1D |
| SYNONYM | CMS2A |
| SYNONYM | CMS2C |
| SYNONYM | SCCMS |
| MIM | 100710 OMIM |
| HGNC | HGNC:1961 HGNC |
| Ensembl | ENSG00000170175 Ensembl |
| AllianceGenome | HGNC:1961 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000306071.7 | hg38 | chr17 | 7,445,061 | 7,457,710 | 12,650 |
| ENST00000536404.6 | hg38 | chr17 | 7,445,503 | 7,456,926 | 11,424 |
| ENST00000576360.1 | hg38 | chr17 | 7,445,531 | 7,457,315 | 11,785 |
| ENST00000575379.1 | hg38 | chr17 | 7,455,594 | 7,457,329 | 1,736 |
| ENST00000306071.7 | hg19 | chr17 | 7,348,380 | 7,361,029 | 12,650 |
| ENST00000536404.6 | hg19 | chr17 | 7,348,822 | 7,360,245 | 11,424 |
| ENST00000576360.1 | hg19 | chr17 | 7,348,850 | 7,360,634 | 11,785 |
| ENST00000575379.1 | hg19 | chr17 | 7,358,913 | 7,360,648 | 1,736 |
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