RGD:14744054 Rat Genome Database

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Variant: RGD:14744054 -  Homo sapiens

RGD ID: 14744054
RS ID: rs538411146
ClinVar ID: CV664614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 121,432,184
GRCh38 10 119,672,672
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004281.3:c.909+16C>T
NG_016125.1:g.26303C>T
NC_000010.11:g.119672672C>T
NC_000010.10:g.121432184C>T
More... 		04/30/2018 intron variant likely benign Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related; none provided
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 RCV000842502 CLINVAR
  RCV002064402 CLINVAR
dbSNP (RS) rs538411146 CLINVAR
MedGen C2751831 CLINVAR
  C3661900 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR