RGD:8607630 Rat Genome Database

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Variant: RGD:8607630 -  Homo sapiens

RGD ID: 8607630
RS ID: rs143919208
ClinVar ID: CV53957
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 121,432,080
GRCh38 10 119,672,568
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016125.1:g.26199C>T
NC_000010.11:g.119672568C>T
NC_000010.10:g.121432080C>T
NP_004272.2:p.Ser274Leu
More... 		03/19/2020 missense|missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance adolescent <1 / 1 000 000 AllHighlyPenetrant; 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:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAR
EGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAA
QPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY
QTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGALSREGSPARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENK
PESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPST
APAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQAR
RDGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATS
NPSSMTDTPGNPAAP*

Gene Symbol:BAG3
Accession:XM_005270287
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAR
EGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAA
QPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY
QTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGALSREGSPARSSTPLHSPSPIRVHTVVDRPQPMTHRETAPVSQPENKP
ESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTA
PAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQARR
DGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATSN
PSSMTDTPGNPAAP*
Variant Samples
Additional References at PubMed
PMID:23861362   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037900 CLINVAR
  RCV000172521 CLINVAR
  RCV001088222 CLINVAR
  RCV002426563 CLINVAR
  RCV003944914 CLINVAR
dbSNP (RS) rs143919208 CLINVAR
MedGen C2751831 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR