RGD:151661841 Rat Genome Database

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Variant: RGD:151661841 -  Homo sapiens

RGD ID: 151661841
RS ID: rs906014476
ClinVar ID: CV1332718
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 104,026,913
GRCh38 14 103,560,576
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001015048.3:c.589C>T
NP_001015048.1:p.Arg197Ter
NM_004873.4:c.589C>T
NG_041786.1:g.2620G>A
More... 		02/10/2022 nonsense pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BAG5
Accession:NM_001015048
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMGNQHPSISRLQEIQKEVKSVEQQVIGFSGLSDDKNYKKLERILTKQLFEIDSVDTEGKGDIQQARKRAAQETERLLK
ELEQNANHPHRIEIQNIFEEAQSLVREKIVPFYNGGNCVTDEFEEGIQDIILRLTHVKTGGKISLRKARYHTLTKICAVQ
EIIEDCMKKQPSLPLSEDAHPSVAKINFVMCEVNKA*GVLIALLMGVNNNETCRHLSCVLSGLIADLDALDVCGRTEIRN
YRREVVEDINKLLKYLDLEEEADTTKAFDLRQNHSILKIEKVLKRMREIKNELLQAQNPSELYLSSKTELQGLIGQLDEV
SLEKNPCIREARRRAVIEVQTLITYIDLKEALEKRKLFACEEHPSHKAVWNVLGNLSEIQGEVLSFDGNRTDKNYIRLEE
LLTKQLLALDAVDPQGEEKCKAARKQAVRLAQNILSYLDLKSDEWEY*

Gene Symbol:BAG5
Accession:NM_004873
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMGNQHPSISRLQEIQKEVKSVEQQVIGFSGLSDDKNYKKLERILTKQLFEIDSVDTEGKGDIQQARKRAAQETERLLK
ELEQNANHPHRIEIQNIFEEAQSLVREKIVPFYNGGNCVTDEFEEGIQDIILRLTHVKTGGKISLRKARYHTLTKICAVQ
EIIEDCMKKQPSLPLSEDAHPSVAKINFVMCEVNKA*GVLIALLMGVNNNETCRHLSCVLSGLIADLDALDVCGRTEIRN
YRREVVEDINKLLKYLDLEEEADTTKAFDLRQNHSILKIEKVLKRMREIKNELLQAQNPSELYLSSKTELQGLIGQLDEV
SLEKNPCIREARRRAVIEVQTLITYIDLKEALEKRKLFACEEHPSHKAVWNVLGNLSEIQGEVLSFDGNRTDKNYIRLEE
LLTKQLLALDAVDPQGEEKCKAARKQAVRLAQNILSYLDLKSDEWEY*

Gene Symbol:BAG5
Accession:NM_001015049
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMGNQHPSISRLQEIQKEVKSVEQQVIGFSGLSDDKNYKKLERILTKQLFEIDSVDTEGKGDIQQARKRAAQETERLLK
ELEQNANHPHRIEIQNIFEEAQSLVREKIVPFYNGGNCVTDEFEEGIQDIILRLTHVKTGGKISLRKARYHTLTKICAVQ
EIIEDCMKKQPSLPLSEDAHPSVAKINFVMCEVNKA*GVLIALLMGVNNNETCRHLSCVLSGLIADLDALDVCGRTEIRN
YRREVVEDINKLLKYLDLEEEADTTKAFDLRQNHSILKIEKVLKRMREIKNELLQAQNPSELYLSSKTELQGLIGQLDEV
SLEKNPCIREARRRAVIEVQTLITYIDLKEALEKRKLFACEEHPSHKAVWNVLGNLSEIQGEVLSFDGNRTDKNYIRLEE
LLTKQLLALDAVDPQGEEKCKAARKQAVRLAQNILSYLDLKSDEWEY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001836657 CLINVAR
dbSNP (RS) rs906014476 CLINVAR
MedGen C5676917 CLINVAR
NCBI Gene BAG5 CLINVAR
OMIM 603885 CLINVAR
  619747 CLINVAR
OMIM Allele 603885.0001 CLINVAR