RGD:405002654 Rat Genome Database

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Variant: RGD:405002654 -  Homo sapiens

RGD ID: 405002654
ClinVar ID: CV3095607
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 121,411,378
GRCh38 10 119,651,866
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.121411378C>T
NM_004281.4:c.180+11C>T
LRG_742:g.5497C>T
NG_016125.1:g.5497C>T
More... 		11/07/2023 intron variant likely benign Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BAG3
Accession:XM_005270287
Location:INTRON

Gene Symbol:BAG3
Accession:NM_004281
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003793912 CLINVAR
MedGen C2751831 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR