RGD:9687583 Rat Genome Database

Variant: RGD:9687583 - Homo sapiens

RGD ID:

9687583

RS ID:

rs139399890

ClinVar ID:

CV174615

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BAG3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	121,432,147
GRCh38	10	119,672,635

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_016125.1:g.26266C>T NC_000010.11:g.119672635C>T NC_000010.10:g.121432147C>T p.His296His More...	12/20/2018	synonymous variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	AllHighlyPenetrant; Cardiomyopathies; Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related; none provided

Disease Annotations Click to see Annotation Detail View

cardiomyopathy (IAGP)

dilated cardiomyopathy 1HH (IAGP)

myofibrillar myopathy 6 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Cardiomyopathy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	BAG3
Accession:	NM_004281
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	296

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAR EGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAA QPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY QTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENK PESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPST APAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQAR RDGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATS NPSSMTDTPGNPAAP*

Gene Symbol:	BAG3
Accession:	XM_005270287
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	296

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAR EGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAA QPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY QTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQPMTHRETAPVSQPENKP ESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTA PAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQARR DGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATSN PSSMTDTPGNPAAP*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:24033266	PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000150181	CLINVAR
	RCV000265465	CLINVAR
	RCV000358035	CLINVAR
	RCV000555379	CLINVAR
	RCV000617598	CLINVAR
	RCV001528794	CLINVAR
	RCV003486665	CLINVAR
dbSNP (RS)	rs139399890	CLINVAR
MedGen	C0878544	CLINVAR
	C2751831	CLINVAR
	C3151293	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
	CN230736	CLINVAR
NCBI Gene	BAG3	CLINVAR
OMIM	603883	CLINVAR
	612954	CLINVAR
	613881	CLINVAR
SNOMED CT	85898001	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:9687583 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:9687583 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar