RGD:28902862 Rat Genome Database

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Variant: RGD:28902862 -  Homo sapiens

RGD ID: 28902862
RS ID: rs752034695
ClinVar ID: CV865542
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADSB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 124,812,632
GRCh38 10 123,053,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330174.3:c.878C>T
LRG_451t1:c.1184C>T
NM_001609.4:c.1184C>T
LRG_451:g.49204C>T
More... 		01/12/2018 missense variant uncertain significance 2-methylbutyric aciduria; 2-methylbutyryl-CoA dehydrogenase deficiency; 2-methylbutyrylglycinuria; 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: T to I (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIEVDPEYGGTGASFLSTVLVIEELAKVDASVAVFCEIQNTLINTLIRKHGTEEQKATYLPQLTTEKVGSFCLSEAGAG
SDSFALKTRADKEGDYYVLNGSKMWISSAEHAGLFLVMANVDPTIGYKGITSFLVDRDTPGLHIGKPENKLGLRASSTCP
LTFENVKVPEANILGQIGHGYKYAIGSLNEGRIGIAAQMLGLAQGCFDYTIPYIKERIQFGKRLFDFQGLQHQVAHVATQ
LEAARLLTYNAARLLEAGKPFIKEASMAKYYASEIAGQTTSKCIEWMGGVGYIKDYPVEKYFRDAKIGTIYEGASNIQLN
TIAKHIDAEY*

Gene Symbol:ACADSB
Accession:NM_001609
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGLAVRLLRGSRLLRRNFLTCLSSWKIPPHVSKSSQSEALLNITNNGIHFAPLQTFTDEEMMIKSSVKKFAQEQIAPLV
STMDENSKMEKSVIQGLFQQGLMGIEVDPEYGGTGASFLSTVLVIEELAKVDASVAVFCEIQNTLINTLIRKHGTEEQKA
TYLPQLTTEKVGSFCLSEAGAGSDSFALKTRADKEGDYYVLNGSKMWISSAEHAGLFLVMANVDPTIGYKGITSFLVDRD
TPGLHIGKPENKLGLRASSTCPLTFENVKVPEANILGQIGHGYKYAIGSLNEGRIGIAAQMLGLAQGCFDYTIPYIKERI
QFGKRLFDFQGLQHQVAHVATQLEAARLLTYNAARLLEAGKPFIKEASMAKYYASEIAGQTTSKCIEWMGGVGYIKDYPV
EKYFRDAKIGTIYEGASNIQLNTIAKHIDAEY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104849 CLINVAR
dbSNP (RS) rs752034695 CLINVAR
MedGen C1864912 CLINVAR
NCBI Gene ACADSB CLINVAR
OMIM 600301 CLINVAR
  610006 CLINVAR
SNOMED CT 444838008 CLINVAR