RGD:28897284 Rat Genome Database

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Variant: RGD:28897284 -  Homo sapiens

RGD ID: 28897284
RS ID: rs543269835
ClinVar ID: CV865482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 121,411,060
GRCh38 10 119,651,548
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_742t1:c.-128G>T
NM_004281.4:c.-128G>T
LRG_742:g.5179G>T
NG_016125.1:g.5179G>T
More... 		01/13/2018 5 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:5UTRS;EXON

Gene Symbol:BAG3
Accession:XM_005270287
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001102543 CLINVAR
  RCV001102544 CLINVAR
dbSNP (RS) rs543269835 CLINVAR
MedGen C2751831 CLINVAR
  C3151293 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR