RGD:13467287 Rat Genome Database

Variant: RGD:13467287 - Homo sapiens

RGD ID:

13467287

RS ID:

rs759775666

ClinVar ID:

CV469035

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ACADVL

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	7,127,498
GRCh38	17	7,224,179

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_007975.1:g.9346G>C NC_000017.11:g.7224179G>C NC_000017.10:g.7127498G>C NP_000009.1:p.Ala490Pro More...	04/11/2023	missense variant	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	VLCAD deficiency

Disease Annotations Click to see Annotation Detail View

very long chain acyl-CoA dehydrogenase deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ACADVL
Accession:	NM_001270447
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	513

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLGGLAAAAGTRIMGKEIEAEAQRPLRQTWRPGQPPAMTAKTMSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPS DALTRKKPAKAESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLK ELGAFGLQVPSELGGVGLCNTQYARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLT EPSSGSDAASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPE KKMGIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFG LIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRI FRIFEGTNDILRLFVALQGCMDKGKELSGLGSPLKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAV RALEQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREG MAALQSDPWQQELYRNFKSISKALVERGGVVTSNPLGF*

Gene Symbol:	ACADVL
Accession:	NM_000018
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	490

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDALTRKKPAKAESKSFAVGMFKG QLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQY ARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKY YTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSE NVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMV SANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDK GKELSGLGSPLKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVN EQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKSISKA LVERGGVVTSNPLGF*

Gene Symbol:	ACADVL
Accession:	NM_001270448
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	414

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLC NTQYARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSP CGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVR VPSENVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESM AYMVSANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQG CMDKGKELSGLGSPLKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKK GIVNEQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKS ISKALVERGGVVTSNPLGF*

Gene Symbol:	ACADVL
Accession:	XM_006721516
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	490

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDALTRKKPAKAESKSFAVGMFKG QLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQY ARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKY YTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSE NVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMV SANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDK GKELSGLGSPLKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVS EEAGRECLSRRGPGPGSQPAQIYFHLLLPARASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQELYRN FKSISKALVERGGVVTSNPLGF*

Gene Symbol:	ACADVL
Accession:	XM_047435931
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	490

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDALTRKKPAKAESKSFAVGMFKG QLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQY ARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKY YTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSE NVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMV SANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDK GKELSGLGSPLKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELYGLWSSLPLWWRPS*

Gene Symbol:	ACADVL
Accession:	NM_001033859
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	468

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFL KELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQYARLVEIVGMHDLGVGITLGAHQ SIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVF AKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRF GMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKIFG SEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDKGKELSGLGSPLKNPFGNAGLLL GEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLYAMVVVL SRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKSISKALVERGGVVTSNPLGF*

Gene Symbol:	ACADVL
Accession:	XM_011523830
Location:	INTRON

Gene Symbol:	ACADVL
Accession:	XM_011523829
Location:	INTRON

Gene Symbol:	ACADVL
Accession:	XM_047435932
Location:	INTRON

Gene Symbol:	ACADVL
Accession:	XR_007065296
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:9839948	PMID:10077518	PMID:14517516	PMID:17374501	PMID:25741868	PMID:26453363	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000554101	CLINVAR
dbSNP (RS)	rs759775666	CLINVAR
MedGen	C3887523	CLINVAR
NCBI Gene	ACADVL	CLINVAR
	DVL2	CLINVAR
OMIM	201475	CLINVAR
	602151	CLINVAR
	609575	CLINVAR
SNOMED CT	237997005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13467287 - Homo sapiens

Imported Disease Annotations - ClinVar