RGD:11637183 Rat Genome Database

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Variant: RGD:11637183 -  Homo sapiens

RGD ID: 11637183
RS ID: rs201273972
ClinVar ID: CV270735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAD8  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 134,128,494
GRCh38 11 134,258,600
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014384.2:c.466G>T
LRG_448t1:c.466G>T
LRG_448:g.10061G>T
NG_015842.1:g.10061G>T
More... 		06/09/2022 missense variant conflicting interpretations of pathogenicity|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_011542750
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFSSYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEAP
FSNLSLCWNRLEGMGAQIAGLNPRASAPEGLVWAWEFVSATSLQVRLPQLV*

Gene Symbol:ACAD8
Accession:XM_047426770
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSRKNFKKWPLTLLPERWLQIWQSGTRSMCAWMIDSFGNEEQRHKFCPPLCTMEKFSSYCLTEPGSGSDAASLLTSAKK
QGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANR
IGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAV
ALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE*

Gene Symbol:ACAD8
Accession:NM_014384
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFSSYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGS
NEVMRILISRSLLQE*

Gene Symbol:ACAD8
Accession:XM_005271505
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFSSYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKLLTLV
HFVAPGRDA*

Gene Symbol:ACAD8
Accession:XM_047426769
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSRKNFKKWPLTLLPERWLQIWQSGTRSMCAWMIDSFGNEEQRHKFCPPLCTMEKFSSYCLTEPGSGSDAASLLTSAKK
QGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANR
IGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAV
ALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEAPFSNLSLCWNRLEGMGAQI
AGLNPRASAPEGLVWAWEFVSATSLQVRLPQLV*

Gene Symbol:ACAD8
Accession:XM_047426768
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFSSYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEEL
FWQGPGVQSRSFVPFGGPQIALLLPFSSGDLREG*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000281568 CLINVAR
  RCV000807309 CLINVAR
dbSNP (RS) rs201273972 CLINVAR
MedGen C1969809 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACAD8 CLINVAR
OMIM 604773 CLINVAR
  611283 CLINVAR
SNOMED CT 445274004 CLINVAR