RGD:126755491 Rat Genome Database

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Variant: RGD:126755491 -  Homo sapiens

RGD ID: 126755491
RS ID: rs371156848
ClinVar ID: CV994395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAD8  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 134,131,054
GRCh38 11 134,261,160
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014384.3:c.822C>A
LRG_448:g.12621C>A
NG_015842.1:g.12621C>A
NC_000011.10:g.134261160C>A
More...
06/01/2023 missense variant likely pathogenic|uncertain significance ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF; Acyl-CoaA dehydrogenase family, member 8, deficiency of; IBD deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACAD8
Accession:NM_014384
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLKGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGS
NEVMRILISRSLLQE*

Gene Symbol:ACAD8
Accession:XM_011542750
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLKGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEAP
FSNLSLCWNRLEGMGAQIAGLNPRASAPEGLVWAWEFVSATSLQVRLPQLV*

Gene Symbol:ACAD8
Accession:XM_047426768
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK
AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL
TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLKGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA
DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEEL
FWQGPGVQSRSFVPFGGPQIALLLPFSSGDLREG*

Gene Symbol:ACAD8
Accession:XM_047426770
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSRKNFKKWPLTLLPERWLQIWQSGTRSMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKK
QGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANR
IGSEGQGFLIAVRGLKGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAV
ALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE*

Gene Symbol:ACAD8
Accession:XM_047426769
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSRKNFKKWPLTLLPERWLQIWQSGTRSMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKK
QGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANR
IGSEGQGFLIAVRGLKGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAV
ALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEAPFSNLSLCWNRLEGMGAQI
AGLNPRASAPEGLVWAWEFVSATSLQVRLPQLV*

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

Gene Symbol:ACAD8
Accession:XM_005271505
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001298364 CLINVAR
  RCV003405513 CLINVAR
dbSNP (RS) rs371156848 CLINVAR
MedGen C1969809 CLINVAR
NCBI Gene ACAD8 CLINVAR
OMIM 604773 CLINVAR
  611283 CLINVAR
SNOMED CT 445274004 CLINVAR