RGD:11607008 Rat Genome Database

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Variant: RGD:11607008 -  Homo sapiens

RGD ID: 11607008
RS ID: rs557535632
ClinVar ID: CV320373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  LOC127819366  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 121,410,895
GRCh38 10 119,651,383
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_742t1:c.-293T>A
LRG_742:g.5014T>A
NG_016125.1:g.5014T>A
NC_000010.11:g.119651383T>A
More... 		05/01/2022 5 prime utr variant benign|likely benign|uncertain significance Myofibrillar myopathy, BAG3-related; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BAG3
Accession:XM_005270287
Location:5UTRS;EXON

Gene Symbol:BAG3
Accession:NM_004281
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000338219 CLINVAR
  RCV000398523 CLINVAR
  RCV002262950 CLINVAR
dbSNP (RS) rs557535632 CLINVAR
MedGen C2751831 CLINVAR
  C3151293 CLINVAR
  C3661900 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR