Annotation Detail

Information
Associated Genes
CHRNB4
Associated Variants
CHRNB4 c.*76T>C ( ENST00000412074.6, ENST00000261751.8 )
CHRNB4 c.*76T>C ( ENST00000261751.8, ENST00000412074.6 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000750.5(CHRNB4):c.*76T>C AND not provided
ClinVar Allele ID
1279134
ClinVar RefSeq Alternation Syntax
NM_000750.5:c.*76T>C
ClinVar RefSeq Alternation Syntax
NM_001256567.3:c.594T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2020-04-27
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001713894
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs