CHRNA3 cholinergic receptor nicotinic alpha 3 subunit
Information
- Symbol
- CHRNA3
- Type
- protein-coding
- Description
- cholinergic receptor nicotinic alpha 3 subunit
- Entrez Gene ID
- 1136
- Genome
- hg19
- Position
- chr15:78,887,651-78,913,338
- Genome
- hg38
- Position
- chr15:78,595,309-78,620,996
- MIM
- 118503 OMIM
- HGNC
- HGNC:1957 HGNC
- Ensembl
- ENSG00000080644 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 38 |
| Likely benign | 0 | 56 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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18 |
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146 |
![]() |
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
|
| 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 | BAIPRCK |
| SYNONYM | LNCR2 |
| SYNONYM | NACHRA3 |
| SYNONYM | PAOD2 |
| MIM | 118503 OMIM |
| HGNC | HGNC:1957 HGNC |
| Ensembl | ENSG00000080644 Ensembl |
| AllianceGenome | HGNC:1957 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000348639.7 | hg38 | chr15 | 78,593,052 | 78,621,295 | 28,244 |
| ENST00000326828.6 | hg38 | chr15 | 78,595,309 | 78,620,996 | 25,688 |
| ENST00000348639.7 | hg19 | chr15 | 78,885,394 | 78,913,637 | 28,244 |
| ENST00000326828.6 | hg19 | chr15 | 78,887,651 | 78,913,338 | 25,688 |
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