Annotation Detail
Information
- Associated Genes
- CHRNA5
- Associated Variants
-
CHRNA5 p.Asp398Asn (p.D398N)
(
ENST00000299565.9,
ENST00000559554.5 )
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 ) - Associated Disease
- Lung cancer susceptibility 2
- Source Database
- ClinVar
- Description
- NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn) AND Lung cancer susceptibility 2
- ClinVar Allele ID
- 32536
- ClinVar RefSeq Alternation Syntax
- NM_000745.4:c.1192G>A
- ClinVar RefSeq Alternation Syntax
- NM_001395172.1:c.591+601G>A
- ClinVar RefSeq Alternation Syntax
- NM_001395173.1:c.713+479G>A
- ClinVar RefSeq Alternation Syntax
- NM_001395174.1:c.707+485G>A
- ClinVar RefSeq Alternation Syntax
- NM_001395175.1:c.455+734G>A
- ClinVar RefSeq Alternation Syntax
- NM_001395171.1:c.1115+77G>A
- ClinVar RefSeq Alternation Syntax
- NM_001307945.2:c.458+734G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2010-07-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019049
- ClinVar Disease
- Lung cancer susceptibility 2
- Observed Origin Sample
- germline
- Pubmed
- 20643934
- Pubmed
- 19443489
- Pubmed
- 18385738
- Pubmed
- 18385739
Drugs