Annotation Detail

Information
Associated Genes
CHRNA3
Associated Variants
CHRNA3 c.268-64C>A ( ENST00000348639.7, ENST00000326828.6 )
CHRNA3 c.268-64C>A ( ENST00000326828.6, ENST00000348639.7 )
Associated Disease
Urinary bladder, atony of
Source Database
ClinVar
Description
NM_000743.5(CHRNA3):c.268-64C>A AND Urinary bladder, atony of
ClinVar Allele ID
1199833
ClinVar RefSeq Alternation Syntax
NM_000743.5:c.268-64C>A
ClinVar RefSeq Alternation Syntax
NM_001166694.2:c.268-64C>A
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/RCV001579081
ClinVar Disease
Urinary bladder, atony of
Observed Origin Sample
germline
Drugs