Annotation Detail
Information
- Associated Genes
- CHRNA3
- Associated Variants
-
CHRNA3 p.Val53= (p.V53=)
(
ENST00000348639.7,
ENST00000326828.6 )
CHRNA3 p.Val53= (p.V53=) ( ENST00000326828.6, ENST00000348639.7 ) - Associated Disease
- Urinary bladder, atony of
- Source Database
- ClinVar
- Description
- NM_000743.5(CHRNA3):c.159A>G (p.Val53=) AND Urinary bladder, atony of
- ClinVar Allele ID
- 1199834
- ClinVar RefSeq Alternation Syntax
- NM_001166694.2:c.159A>G
- ClinVar RefSeq Alternation Syntax
- NM_000743.5:c.159A>G
- ClinVar RefSeq Alternation Syntax
- NR_046313.2:n.361A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001578888
- ClinVar Disease
- Urinary bladder, atony of
- Observed Origin Sample
- germline
Drugs