RGD:9692652 Rat Genome Database

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Variant: RGD:9692652 -  Homo sapiens

RGD ID: 9692652
RS ID: rs377629003
ClinVar ID: CV177266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAD8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 134,127,006
GRCh38 11 134,257,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_448t1:c.235C>T
LRG_448:g.8573C>T
NG_015842.1:g.8573C>T
NC_000011.10:g.134257112C>T
More... 		08/31/2021 missense variant pathogenic|uncertain significance ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF; Acyl-CoaA dehydrogenase family, member 8, deficiency of; IBD deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACAD8
Accession:XM_005271505
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMWK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKLLTLV
HFVAPGRDA*

Gene Symbol:ACAD8
Accession:XM_011542750
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMWK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEAP
FSNLSLCWNRLEGMGAQIAGLNPRASAPEGLVWAWEFVSATSLQVRLPQLV*

Gene Symbol:ACAD8
Accession:NM_014384
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMWK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGS
NEVMRILISRSLLQE*

Gene Symbol:ACAD8
Accession:XM_047426768
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMWK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEEL
FWQGPGVQSRSFVPFGGPQIALLLPFSSGDLREG*

Gene Symbol:ACAD8
Accession:XR_007062474
Location:EXON;NON-CODING

Gene Symbol:ACAD8
Accession:XM_047426769
Location:INTRON

Gene Symbol:ACAD8
Accession:XM_047426770
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30253142   PMID:34544473  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000152726 CLINVAR
  RCV001850081 CLINVAR
dbSNP (RS) rs377629003 CLINVAR
MedGen C1969809 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACAD8 CLINVAR
OMIM 604773 CLINVAR
  611283 CLINVAR
SNOMED CT 445274004 CLINVAR