RGD:38459101 Rat Genome Database

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Variant: RGD:38459101 -  Homo sapiens

RGD ID: 38459101
RS ID: rs1435201335
ClinVar ID: CV940951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 121,411,372
GRCh38 10 119,651,860
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.5491G>C
NC_000010.11:g.119651860G>C
NC_000010.10:g.121411372G>C
NM_004281.3:c.180+5G>C
More... 		08/05/2019 intron variant uncertain significance 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001224798 CLINVAR
dbSNP (RS) rs1435201335 CLINVAR
MedGen C2751831 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR