RGD:11604477 Rat Genome Database

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Variant: RGD:11604477 -  Homo sapiens

RGD ID: 11604477
RS ID: rs1131430
ClinVar ID: CV314482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADSB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 124,806,770
GRCh38 10 123,047,254
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_451t1:c.946A>G
LRG_451:g.43342A>G
NG_008003.1:g.43342A>G
NC_000010.11:g.123047254A>G
More... 		12/04/2020 missense variant benign|likely benign infancy <1 / 1 000 000 2-methylbutyric aciduria; 2-methylbutyryl-CoA dehydrogenase deficiency; 2-methylbutyrylglycinuria; none provided; SBCAD deficiency; Short branched-chain acyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACADSB
Accession:NM_001330174
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIEVDPEYGGTGASFLSTVLVIEELAKVDASVAVFCEIQNTLINTLIRKHGTEEQKATYLPQLTTEKVGSFCLSEAGAG
SDSFALKTRADKEGDYYVLNGSKMWISSAEHAGLFLVMANVDPTIGYKGITSFLVDRDTPGLHIGKPENKLGLRASSTCP
LTFENVKVPEANILGQIGHGYKYAIGSLNEGRIGIAAQMLGLAQGCFDYTIPYVKERIQFGKRLFDFQGLQHQVAHVATQ
LEAARLLTYNAARLLEAGKPFIKEASMAKYYASEIAGQTTSKCIEWMGGVGYTKDYPVEKYFRDAKIGTIYEGASNIQLN
TIAKHIDAEY*

Gene Symbol:ACADSB
Accession:NM_001609
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGLAVRLLRGSRLLRRNFLTCLSSWKIPPHVSKSSQSEALLNITNNGIHFAPLQTFTDEEMMIKSSVKKFAQEQIAPLV
STMDENSKMEKSVIQGLFQQGLMGIEVDPEYGGTGASFLSTVLVIEELAKVDASVAVFCEIQNTLINTLIRKHGTEEQKA
TYLPQLTTEKVGSFCLSEAGAGSDSFALKTRADKEGDYYVLNGSKMWISSAEHAGLFLVMANVDPTIGYKGITSFLVDRD
TPGLHIGKPENKLGLRASSTCPLTFENVKVPEANILGQIGHGYKYAIGSLNEGRIGIAAQMLGLAQGCFDYTIPYVKERI
QFGKRLFDFQGLQHQVAHVATQLEAARLLTYNAARLLEAGKPFIKEASMAKYYASEIAGQTTSKCIEWMGGVGYTKDYPV
EKYFRDAKIGTIYEGASNIQLNTIAKHIDAEY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000309700 CLINVAR
  RCV001653469 CLINVAR
dbSNP (RS) rs1131430 CLINVAR
MedGen C1864912 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACADSB CLINVAR
OMIM 600301 CLINVAR
  610006 CLINVAR
SNOMED CT 444838008 CLINVAR