Annotation Detail

Information
Associated Genes
BAG3
Associated Variants
BAG3 p.Cys151Arg (p.C151R) ( ENST00000369085.8 )
BAG3 p.Cys151Arg (p.C151R) ( ENST00000369085.8 )
Source Database
ClinVar
Description
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND Cardiovascular phenotype
ClinVar Allele ID
53950
ClinVar RefSeq Alternation Syntax
NM_004281.4:c.451T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2015-06-19
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000243456
Observed Origin Sample
germline
Drugs