RGD:12888297 Rat Genome Database

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Variant: RGD:12888297 -  Homo sapiens

RGD ID: 12888297
RS ID: rs1060504721
ClinVar ID: CV397564
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 121,411,377
GRCh38 10 119,651,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_742t1:c.180+10G>C
LRG_742:g.5496G>C
NG_016125.1:g.5496G>C
NC_000010.11:g.119651865G>C
More...
02/11/2020 intron variant likely benign adolescent <1 / 1 000 000 Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BAG3
Accession:NM_004281
Location:INTRON

Gene Symbol:BAG3
Accession:XM_005270287
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000470608 CLINVAR
dbSNP (RS) rs1060504721 CLINVAR
MedGen C2751831 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR