RGD:9690647 Rat Genome Database

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Variant: RGD:9690647 -  Homo sapiens

RGD ID: 9690647
RS ID: rs727504938
ClinVar ID: CV174609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 121,411,380
GRCh38 10 119,651,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016125.1:g.5499C>T
NC_000010.11:g.119651868C>T
NC_000010.10:g.121411380C>T
NM_004281.4:c.180+13C>T
More... 		11/17/2017 intron variant likely benign AllHighlyPenetrant; 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:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000156333 CLINVAR
  RCV002056125 CLINVAR
dbSNP (RS) rs727504938 CLINVAR
MedGen C2751831 CLINVAR
  CN169374 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR