RGD:8604253 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:8604253 -  Homo sapiens

RGD ID: 8604253
RS ID: rs117671123
ClinVar ID: CV48065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 121,432,031
GRCh38 10 119,672,519
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.26150C>T
NC_000010.11:g.119672519C>T
NC_000010.10:g.121432031C>T
NP_004272.2:p.Arg258Trp
More... 		12/31/2019 missense|missense variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance adolescent|childhood <1 / 1 000 000 AllHighlyPenetrant; Asphyxiating thoracic dystrophy 3; Cardiomyopathies; Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related; none provided; Polydactyly with neonatal chondrodystrophy type 1; Polydactyly with neonatal chondrodystrophy type III; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I; Protein surplus myopathy (former name); Saldino-Noonan Syndrome; Short rib polydactyly syndrome 2B; Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome Saldino-Noonan type; Short rib-polydactyly syndrome type 1; Short-rib polydactyly syndrome type I; Short-rib polydactyly syndrome type III; Short-rib thoracic dysplasia 3 with or without polydactyly; SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC; SRPS type 1; SRPS type 3; Verma Naumoff syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:BAG3
Accession:XM_005270287
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAR
EGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAA
QPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY
QTHQPVYHKIQGDDWEPWPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQPMTHRETAPVSQPENKP
ESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTA
PAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQARR
DGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATSN
PSSMTDTPGNPAAP*

Gene Symbol:BAG3
Accession:NM_004281
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAR
EGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAA
QPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY
QTHQPVYHKIQGDDWEPWPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENK
PESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPST
APAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQAR
RDGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATS
NPSSMTDTPGNPAAP*
Variant Samples
Additional References at PubMed
PMID:21361913   PMID:23861362   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000032662 CLINVAR
  RCV000037897 CLINVAR
  RCV000490529 CLINVAR
  RCV000493677 CLINVAR
  RCV000590218 CLINVAR
  RCV000618102 CLINVAR
  RCV001081302 CLINVAR
  RCV001107316 CLINVAR
  RCV003486548 CLINVAR
dbSNP (RS) rs117671123 CLINVAR
MedGen C0036069 CLINVAR
  C0878544 CLINVAR
  C2678065 CLINVAR
  C2751831 CLINVAR
  C3151293 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene BAG3 CLINVAR
OMIM 603297 CLINVAR
  603883 CLINVAR
  612954 CLINVAR
  613091 CLINVAR
  613881 CLINVAR
OMIM Allele 603883.0009 CLINVAR
SNOMED CT 699269005 CLINVAR
  85898001 CLINVAR