RGD:28902678 Rat Genome Database

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Variant: RGD:28902678 -  Homo sapiens

RGD ID: 28902678
RS ID: rs978995119
ClinVar ID: CV865487
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 121,437,249
GRCh38 10 119,677,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_742t1:c.*455G>A
NM_004281.4:c.*455G>A
LRG_742:g.31368G>A
NG_016125.1:g.31368G>A
More... 		03/23/2018 3 prime utr variant uncertain significance Myofibrillar myopathy, BAG3-related
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BAG3
Accession:NM_004281
Location:3UTRS;EXON

Gene Symbol:BAG3
Accession:XM_005270287
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104764 CLINVAR
  RCV001104765 CLINVAR
dbSNP (RS) rs978995119 CLINVAR
MedGen C2751831 CLINVAR
  C3151293 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR