Annotation Detail
Information
- Associated Genes
- CHRNA3
- Associated Variants
-
CHRNA3 p.Tyr215= (p.Y215=)
(
ENST00000348639.7,
ENST00000326828.6 )
CHRNA3 p.Tyr215= (p.Y215=) ( ENST00000326828.6, ENST00000348639.7 ) - Associated Disease
- Smoking as a quantitative trait locus 3
- Source Database
- ClinVar
- Description
- NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=) AND Smoking as a quantitative trait locus 3
- Observed Origin Sample
- germline
- Pubmed
- 18385676
- Pubmed
- 18385738
- Pubmed
- 18385739
- ClinVar Allele ID
- 32542
- ClinVar RefSeq Alternation Syntax
- NR_046313.2:n.847C>T
- ClinVar RefSeq Alternation Syntax
- NM_000743.5:c.645C>T
- ClinVar RefSeq Alternation Syntax
- NM_001166694.2:c.645C>T
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2008-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000033204
- ClinVar Disease
- Smoking as a quantitative trait locus 3
Drugs