RGD:126762059 Rat Genome Database

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Variant: RGD:126762059 -  Homo sapiens

RGD ID: 126762059
RS ID: rs1212877946
ClinVar ID: CV993730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 121,411,366
GRCh38 10 119,651,854
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004281.4:c.179A>G
LRG_742:g.5485A>G
NG_016125.1:g.5485A>G
NC_000010.11:g.119651854A>G
More... 		07/13/2020 missense variant uncertain significance 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:EXON

Gene Symbol:BAG3
Accession:NM_004281
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001300276 CLINVAR
dbSNP (RS) rs1212877946 CLINVAR
MedGen C2751831 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR