RGD:11345043 Rat Genome Database

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Variant: RGD:11345043 -  Homo sapiens

RGD ID: 11345043
RS ID: rs876661343
ClinVar ID: CV236776
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 121,432,043
GRCh38 10 119,672,531
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
LRG_742t1:c.784G>A
LRG_742:g.26162G>A
NG_016125.1:g.26162G>A
NC_000010.11:g.119672531G>A
More... 		08/10/2018 missense variant 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: A to T (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAR
EGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAA
QPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY
QTHQPVYHKIQGDDWEPRPLRTASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENK
PESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPST
APAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQAR
RDGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATS
NPSSMTDTPGNPAAP*

Gene Symbol:BAG3
Accession:XM_005270287
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAR
EGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAA
QPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY
QTHQPVYHKIQGDDWEPRPLRTASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQPMTHRETAPVSQPENKP
ESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTA
PAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQARR
DGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATSN
PSSMTDTPGNPAAP*
Variant Samples
Additional References at PubMed
PMID:21353195   PMID:28492532   PMID:28669108  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000223716 CLINVAR
  RCV000464394 CLINVAR
  RCV000766537 CLINVAR
  RCV002408942 CLINVAR
dbSNP (RS) rs876661343 CLINVAR
MedGen C2751831 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603883 CLINVAR
  612954 CLINVAR
  613881 CLINVAR