Annotation Detail
Information
- Associated Genes
- BAG3
- Associated Variants
-
BAG3 p.Cys151Arg (p.C151R)
(
ENST00000369085.8 )
BAG3 p.Cys151Arg (p.C151R) ( ENST00000369085.8 ) - Associated Disease
- dilated cardiomyopathy 1HH myofibrillar myopathy 6
- Source Database
- ClinVar
- Description
- NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND multiple conditions
- ClinVar Allele ID
- 53950
- ClinVar RefSeq Alternation Syntax
- NM_004281.4:c.451T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001517578
- ClinVar Disease
- Dilated cardiomyopathy 1HH
- ClinVar Disease
- Myofibrillar myopathy 6
- Observed Origin Sample
- germline
Drugs